ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.219A>C (p.Gly73=)

dbSNP: rs927707804
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 RCV001395946 SCV001597665 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259113 SCV002531507 likely benign Xeroderma pigmentosum 2021-12-23 criteria provided, single submitter curation

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