ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)

dbSNP: rs750450365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987123 SCV001136329 uncertain significance Xeroderma pigmentosum, group C 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067575 SCV002404102 benign not provided 2022-05-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258083 SCV002537471 uncertain significance Xeroderma pigmentosum 2021-08-09 criteria provided, single submitter curation

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