Source

Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript)

PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 · Peer-reviewed

DOI: 10.1016/j.gim.2024.101213 Original source

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1 evidence claim
1 use case

Claims

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Relevance of vep-uc-20261014-protocol-pejaver2022-intervals to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) (vep-uc-20261014-source-pejaver2022: Table 2 and footnote; Methods; author list; references 13, 18, 19, 23, 25; vep-uc-20261014-source-tejura2024: Summary; vep-uc-20261014-source-stenton2024: Table 1)

Models, benchmarks and other records

Use cases (1)

Use calibrated computational evidence for missense variants (PP3/BP4)

Evidence

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Evidence table

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27 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statement	Original source and location	Review and provenance
attributes.artifact_sha256 debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7 Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.artifact_sha256` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Doi 10.1016/j.gim.2024.101213 Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.doi` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Hash scope artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d. Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.hash_scope` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Licence NIH author manuscript in PMC; publisher copyright, no open licence stated Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.licence` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Limitations 1 values Cited for guidance and limitations only; Table 2 (evidence yield) is not extracted. Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.limitations` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Media type text/html Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.media_type` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Publication status peer_reviewed Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.publication_status` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Retrieved at 2026-10-14T14:49:14Z Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.retrieved_at` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
attributes.review.artifact_sha256 debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7 Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.review.artifact_sha256` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
Review: method note Re-downloaded on 2026-10-14 and matched the pinned SHA-256 (PMC pages after blanking the ncbi_phid and csrfmiddlewaretoken values, checked by an independent normaliser). Source metadata	Stenton et al. 2024, Genet Med 26:101213 (PMC author manuscript) Original source ↗ No field-specific location recorded Version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213 Retrieved: 2026-10-14T14:49:14Z	catalogued No individual claim review recorded Audit details Field: `attributes.review.method_note` Source artifact SHA-256: `debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.

How to read the evidence

Sources and history

Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

Evidence yield of the calibrated PP3/BP4 recommendations in 300 Rare Genomes Project probands, with practical guidance on applying them.

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Technical metadata and extraction receipts

Stable ID: vep-uc-20261014-source-stenton2024

areas: dna-genomes
contexts: clinical_research
url: https://pmc.ncbi.nlm.nih.gov/articles/PMC11560577/
version: PMC11560577, NIH author manuscript of Genet Med 2024;26(11):101213
retrieved at: 2026-10-14T14:49:14Z
artifact sha256: debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7
publication status: peer_reviewed
licence: NIH author manuscript in PMC; publisher copyright, no open licence stated
source locator: Abstract; Table 1 (guidance); Table 2 (evidence yield per proband)
doi: 10.1016/j.gim.2024.101213
media type: text/html
hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to c39211252470dbf0f2c8f0c43506f0a66fc868c06c34cc5bee56d77fb344037d.
limitations: Cited for guidance and limitations only; Table 2 (evidence yield) is not extracted.
review: reviewer: claude; reviewer note: Claude review agent; no human review claimed. Independent Claude (Opus 5.5) review agent, separate from the extraction agent that built this batch. Automated review only. Transcription, not reproduction.; reviewed at: 2026-10-14T16:00:00Z; artifact sha256: debe1ae8e304ac0a6272c093bcf7874977e7b9b3921dbe7f5ba096701611ebe7; retrieval url: https://pmc.ncbi.nlm.nih.gov/articles/PMC11560577/; method: source-hash-verification; method note: Re-downloaded on 2026-10-14 and matched the pinned SHA-256 (PMC pages after blanking the ncbi_phid and csrfmiddlewaretoken values, checked by an independent normaliser).; note: Hash matches.

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