ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2730T>C (p.Asp910=)

gnomAD frequency: 0.00007  dbSNP: rs372394855
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 RCV001464595 SCV001668568 likely benign not provided 2023-09-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258275 SCV002537511 likely benign Xeroderma pigmentosum 2021-03-02 criteria provided, single submitter curation

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