ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.599T>C (p.Leu200Ser)

gnomAD frequency: 0.00008  dbSNP: rs755803064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257193 SCV002531517 uncertain significance Xeroderma pigmentosum 2021-07-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002502066 SCV002781328 uncertain significance Xeroderma pigmentosum group A 2022-05-31 criteria provided, single submitter clinical testing

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