ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)

dbSNP: rs1554933800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350275 SCV000372919 uncertain significance Sphingomyelin/cholesterol lipidosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000824417 SCV000965315 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-02-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237817 SCV002009084 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272132 SCV001453792 uncertain significance Gaucher disease 2020-09-16 no assertion criteria provided clinical testing

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