ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.906T>C (p.Asp302=)

gnomAD frequency: 0.00004  dbSNP: rs148003381
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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 RCV000500726 SCV000594572 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV001449127 SCV001652232 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257771 SCV002537962 likely benign Xeroderma pigmentosum 2022-01-19 criteria provided, single submitter curation

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