ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1431G>A (p.Pro477=)

gnomAD frequency: 0.00003  dbSNP: rs138588535
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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 RCV000942032 SCV001087944 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832162 SCV002092278 likely benign Niemann-Pick disease, type A 2021-02-23 no assertion criteria provided clinical testing

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