ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.75C>T (p.Ala25=)

gnomAD frequency: 0.00001  dbSNP: rs1312090680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730287 SCV000858014 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067106 SCV002486757 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-03-09 criteria provided, single submitter clinical testing

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