ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1214-19T>C

gnomAD frequency: 0.00002  dbSNP: rs747124669
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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 RCV002210454 SCV002494337 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-10-21 criteria provided, single submitter clinical testing

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