ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)

dbSNP: rs1847921909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital RCV001281401 SCV001468706 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-30 criteria provided, single submitter clinical testing

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