ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.429G>A (p.Glu143=)

gnomAD frequency: 0.00001  dbSNP: rs753411843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001405689 SCV001607626 likely benign not provided 2024-02-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256763 SCV002531512 likely benign Xeroderma pigmentosum 2021-12-29 criteria provided, single submitter curation

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