Article

Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria)

2022-05-17

Abstract excerpt

<h4>Purpose</h4> To explore whether evidence of pathogenicity from prior variant classifications in ClinVar could be used to inform variant interpretation using the ACMG/AMP clinical guidelines. <h4>Methods</h4> We identify distinct SNVs which are either similar in location or in functional consequence to pathogenic variants in ClinVar, and analyze evidence in support of pathogenicity using three interpretation cr...

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Literature Corpus work: 5aa755e2-b94e-5a46-be21-e57674225b8f
DOI: 10.1101/2022.05.16.22275073

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