Submissions for variant NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)

gnomAD frequency: 0.07191  dbSNP: rs61753724

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081910	SCV000113845	benign	not specified	2012-11-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081910	SCV000316199	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326662	SCV000470821	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.
Invitae	RCV000326662	SCV000630883	benign	Cohen syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000326662	SCV000743191	benign	Cohen syndrome	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000326662	SCV000744234	benign	Cohen syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311685	SCV000846415	benign	Inborn genetic diseases	2016-05-02	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.
GeneDx	RCV001668205	SCV001884243	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000081910	SCV002819614	benign	not specified	2022-12-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081910	SCV000153494	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.
Natera, Inc.	RCV000326662	SCV001456863	benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081910	SCV001954019	benign	not specified		no assertion criteria provided	clinical testing