ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.42C>T (p.Asp14=)

gnomAD frequency: 0.00001  dbSNP: rs886043215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316217 SCV000338963 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000316217 SCV002986964 likely benign not provided 2023-04-15 criteria provided, single submitter clinical testing

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