ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn)

dbSNP: rs771336819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000211503 SCV000267615 pathogenic Niemann-Pick disease, type A 2015-05-20 no assertion criteria provided research

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