ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)

gnomAD frequency: 0.00021  dbSNP: rs138296474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503387 SCV000594579 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060113 SCV002335811 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-11-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258936 SCV002537954 likely benign Xeroderma pigmentosum 2022-01-27 criteria provided, single submitter curation

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