Submissions for variant NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)

gnomAD frequency: 0.00699  dbSNP: rs116746734

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118830	SCV000153477	benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000118830	SCV000258124	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373171	SCV000470845	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000373171	SCV000630852	benign	Cohen syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312532	SCV000846799	benign	Inborn genetic diseases	2016-06-06	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	RCV001539573	SCV001757360	benign	not provided	2020-03-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001539573	SCV005267288	benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000118830	SCV005620862	benign	not specified	2024-11-25	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000373171	SCV001461454	benign	Cohen syndrome	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975059	SCV004798859	benign	VPS13B-related disorder	2021-02-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).