ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.318+10G>C

gnomAD frequency: 0.00002  dbSNP: rs367666720
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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 RCV001422150 SCV001624692 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938729 SCV004750170 likely benign SMPD1-related disorder 2019-03-21 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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