ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.537A>G (p.Glu179=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437611 SCV001640469 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2019-04-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001820131 SCV002070129 likely benign not specified 2020-02-14 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002258256 SCV002537959 uncertain significance Xeroderma pigmentosum 2021-08-25 criteria provided, single submitter curation

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