ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)

gnomAD frequency: 0.00003  dbSNP: rs565249189
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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 RCV000499736 SCV000594574 likely benign not specified 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV000530646 SCV000654059 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258935 SCV002537937 likely benign Xeroderma pigmentosum 2022-01-18 criteria provided, single submitter curation

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