ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.738G>A (p.Ser246=)

gnomAD frequency: 0.00022  dbSNP: rs146650135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861402 SCV001001702 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-12-14 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002258003 SCV002537960 likely benign Xeroderma pigmentosum 2021-08-19 criteria provided, single submitter curation

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