ClinVar Miner

Submissions for variant NM_000380.3(XPA):c.648_649del (p.Lys217fs) (rs1057519018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000415712 SCV000282085 likely pathogenic Xeroderma pigmentosum group A 2016-03-08 no assertion criteria provided research Variant c.648_649 delGA was found to be pathogenic by Mutation Taster online software

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