ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.405C>T (p.Ser135=)

dbSNP: rs2134009009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470917 SCV001675016 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-14 criteria provided, single submitter clinical testing

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