ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)

gnomAD frequency: 0.15932  dbSNP: rs36074608
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081923 SCV000113858 benign not specified 2015-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081923 SCV000316206 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366445 SCV000470839 benign Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000081923 SCV000540660 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, 2 labs classify as benign in ClinVar
Athena Diagnostics RCV000366445 SCV000677256 benign Cohen syndrome 2017-05-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000366445 SCV000743196 benign Cohen syndrome 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000366445 SCV000744239 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311689 SCV000846219 benign Inborn genetic diseases 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000366445 SCV001725352 benign Cohen syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000366445 SCV001748567 benign Cohen syndrome 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081923 SCV001774605 benign not specified 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001711196 SCV001939461 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711196 SCV005267287 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000081923 SCV000153499 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000366445 SCV000734590 benign Cohen syndrome no assertion criteria provided clinical testing
Natera, Inc. RCV000366445 SCV001460992 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081923 SCV001956026 benign not specified no assertion criteria provided clinical testing

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