ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.591T>C (p.His197=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003780318 SCV004605308 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-10-03 criteria provided, single submitter clinical testing

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