ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)

gnomAD frequency: 0.00004  dbSNP: rs763332387
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408598 SCV001610600 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499877 SCV002797846 likely benign Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 2021-07-30 criteria provided, single submitter clinical testing

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