Submissions for variant NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)

gnomAD frequency: 0.00608  dbSNP: rs113671330

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081922	SCV000113857	benign	not specified	2015-03-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081922	SCV000249427	benign	not specified	2019-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401885	SCV000470837	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000401885	SCV000630896	benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311688	SCV000846135	benign	Inborn genetic diseases	2017-09-22	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.
Genome-Nilou Lab	RCV000401885	SCV001653413	likely benign	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001711195	SCV001946058	benign	not provided	2018-08-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16648375)
Breakthrough Genomics, Breakthrough Genomics	RCV001711195	SCV005223975	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000401885	SCV001461448	benign	Cohen syndrome	2019-12-30	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001711195	SCV002036141	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001711195	SCV002037685	likely benign	not provided		no assertion criteria provided	clinical testing