ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.762G>A (p.Leu254=)

gnomAD frequency: 0.00104  dbSNP: rs143939609
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328518 SCV000344313 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001087547 SCV001062259 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298347 SCV003993284 likely benign Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003930179 SCV004753853 likely benign SMPD1-related disorder 2019-02-18 criteria provided, single submitter 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).
Natera, Inc. RCV001828268 SCV002091694 likely benign Niemann-Pick disease, type A 2017-05-05 no assertion criteria provided clinical testing

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