ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.39C>T (p.Pro13=)

gnomAD frequency: 0.00004  dbSNP: rs775473869
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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) RCV000728118 SCV000855652 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067082 SCV002485736 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742605 SCV005367626 likely benign SMPD1-related disorder 2024-08-19 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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