ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1647C>T (p.His549=)

gnomAD frequency: 0.00001  dbSNP: rs190103795
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000916431 SCV001061670 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258043 SCV002537486 likely benign Xeroderma pigmentosum 2021-11-12 criteria provided, single submitter curation

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