ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1536A>G (p.Glu512=)

gnomAD frequency: 0.00688  dbSNP: rs145969836
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634133 SCV000755427 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315955 SCV000848825 likely benign Inborn genetic diseases 2017-01-17 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.
Illumina Laboratory Services, Illumina RCV000634133 SCV001325464 benign Cohen syndrome 2018-01-13 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.
GeneDx RCV001675947 SCV001892790 benign not provided 2019-04-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675947 SCV005223939 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000634133 SCV002079472 benign Cohen syndrome 2019-12-06 no assertion criteria provided clinical testing

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.