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Article

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific reports - 15 Jan 2020

Xiang Jiale, Yang Jiyun, Chen Lisha, Chen Qiang, Yang Haiyan, Sun Chengcheng, Zhou Qing, Peng Zhiyu

Abstract excerpt

High-frequency disease-causing alleles exist, but their number is rather small. This study aimed to interpret and reclassify common pathogenic (P) and likely pathogenic (LP) variants in ClinVar and to identify indicators linked with reclassification. We analyzed P/LP variants without conflicting interpretations in ClinVar. Only variants with an allele frequency exceeding 0.5% in at least one ancestry in gnomAD...

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Identifiers

PMID: 31942019
DOI: 10.1038/s41598-019-57335-5
PMCID: PMC6962394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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