ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2604C>T (p.His868=)

gnomAD frequency: 0.00002  dbSNP: rs370809250
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531227 SCV001746243 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing ERCC4: BP4, BP7
Invitae RCV002568893 SCV003461250 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-11-28 criteria provided, single submitter clinical testing

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