ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1812G>T (p.Val604=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002410207 SCV002714089 likely benign Inborn genetic diseases 2022-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003427470 SCV004139738 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ERCC2: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003427470 SCV004514690 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing

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