ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)

gnomAD frequency: 0.00312  dbSNP: rs142476821
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081872 SCV000113807 benign not specified 2014-04-15 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000081872 SCV000297276 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361059 SCV000470859 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000081872 SCV000597900 benign not specified 2018-04-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710109 SCV000616264 likely benign not provided 2018-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000361059 SCV000630857 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000710109 SCV000715025 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23352163)
Ambry Genetics RCV002313806 SCV000849183 likely benign Inborn genetic diseases 2021-11-08 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.
CeGaT Center for Human Genetics Tuebingen RCV000710109 SCV004032826 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VPS13B: BS2
Natera, Inc. RCV000361059 SCV001454477 likely benign Cohen syndrome 2020-01-14 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710109 SCV001739589 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710109 SCV001797896 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000710109 SCV001920003 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710109 SCV001929814 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710109 SCV001971054 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003964938 SCV004795943 likely benign VPS13B-related disorder 2019-09-12 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.