ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2066C>T (p.Thr689Met)

gnomAD frequency: 0.00315  dbSNP: rs3731152
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886162 SCV001029652 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000886162 SCV002504590 likely benign not provided 2020-03-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV002243789 SCV002513999 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257445 SCV002537493 likely benign Xeroderma pigmentosum 2021-09-13 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000122326 SCV002548338 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
ITMI RCV000122326 SCV000086556 not provided not specified 2013-09-19 no assertion provided reference population

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