ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.567A>G (p.Lys189=)

dbSNP: rs750187574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733795 SCV000861894 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086249 SCV001061473 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000733795 SCV004701079 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SMPD1: BP4, BP7
Natera, Inc. RCV001276412 SCV001462677 likely benign Sphingomyelin/cholesterol lipidosis 2019-10-02 no assertion criteria provided clinical testing

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