ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.389G>A (p.Arg130Lys)

dbSNP: rs1324310300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666137 SCV000790381 uncertain significance Xeroderma pigmentosum group A 2017-03-17 criteria provided, single submitter clinical testing
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV003403540 SCV004123048 likely pathogenic Xeroderma pigmentosum 2023-07-01 criteria provided, single submitter research

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