ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1029A>T (p.Pro343=)

gnomAD frequency: 0.00001  dbSNP: rs375960281
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489875 SCV001694428 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing

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