ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)

gnomAD frequency: 0.00004  dbSNP: rs140770832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733580 SCV000861659 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001457913 SCV001661725 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892660 SCV004717149 likely benign SMPD1-related disorder 2021-07-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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