ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1101del (p.Phe368fs)

dbSNP: rs1422720020
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Total submissions: 2
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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 RCV001281415 SCV001468720 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570664 SCV005052843 pathogenic Niemann-Pick disease, type A 2024-02-28 criteria provided, single submitter clinical testing

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