ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2607C>T (p.His869=)

gnomAD frequency: 0.00002  dbSNP: rs769736716
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 RCV001453717 SCV001657416 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820144 SCV002070232 likely benign not specified 2020-10-20 criteria provided, single submitter clinical testing

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