ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.627G>A (p.Leu209=)

dbSNP: rs200443318
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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) RCV000383570 SCV000344987 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518135 SCV003282248 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-04-09 criteria provided, single submitter clinical testing

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