ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)

gnomAD frequency: 0.00038  dbSNP: rs138532294
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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 RCV001294384 SCV001483259 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819982 SCV002071330 uncertain significance not specified 2021-05-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258183 SCV002537738 uncertain significance Xeroderma pigmentosum 2022-02-27 criteria provided, single submitter curation

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