ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)

dbSNP: rs775568984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523727 SCV001733496 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832728 SCV002091667 likely benign Niemann-Pick disease, type A 2017-08-09 no assertion criteria provided clinical testing

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