ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.297C>T (p.Gly99=)

gnomAD frequency: 0.00010  dbSNP: rs200953364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904113 SCV001048616 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258033 SCV002531597 likely benign Xeroderma pigmentosum 2020-08-04 criteria provided, single submitter curation
Ambry Genetics RCV002434196 SCV002751388 likely benign Inborn genetic diseases 2022-02-28 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 RCV000904113 SCV004139753 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ERCC2: BP4, BP7

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