ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.978C>T (p.Ala326=)

gnomAD frequency: 0.00001  dbSNP: rs746258199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002181602 SCV002481962 likely benign not provided 2024-02-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258392 SCV002531612 likely benign Xeroderma pigmentosum 2022-02-13 criteria provided, single submitter curation
Ambry Genetics RCV002382457 SCV002695176 likely benign Inborn genetic diseases 2022-02-26 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.

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