ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)

gnomAD frequency: 0.00349  dbSNP: rs147258619
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398280 SCV000344412 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV001084810 SCV000755903 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107856 SCV001265043 uncertain significance Niemann-Pick disease, type A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000675397 SCV001815426 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675397 SCV004135842 benign not provided 2022-07-01 criteria provided, single submitter clinical testing SMPD1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003920163 SCV004746783 likely benign SMPD1-related disorder 2019-02-25 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000675397 SCV000801070 likely benign not provided 2017-08-30 no assertion criteria provided clinical testing
Natera, Inc. RCV001107856 SCV002092284 likely benign Niemann-Pick disease, type A 2017-05-05 no assertion criteria provided clinical testing

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