ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.1008G>A (p.Gly336=)

gnomAD frequency: 0.00248  dbSNP: rs115924997
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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 RCV000861115 SCV001001338 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255547 SCV002534372 likely benign Xeroderma pigmentosum 2021-05-29 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV000861115 SCV005243226 benign not provided criteria provided, single submitter not provided

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