ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)

gnomAD frequency: 0.00004  dbSNP: rs572439259
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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 RCV000651482 SCV000773334 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001294104 SCV001482917 uncertain significance Fanconi anemia complementation group Q 2020-01-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000120825 SCV000084990 not provided not specified 2013-09-19 no assertion provided reference population

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