ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)

gnomAD frequency: 0.00014  dbSNP: rs200715555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064590 SCV002415836 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-10-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258014 SCV002537948 likely benign Xeroderma pigmentosum 2021-11-06 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003424400 SCV004141173 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ERCC4: BP4, BP7

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