Submissions for variant NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)

gnomAD frequency: 0.00412  dbSNP: rs61753725

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081911	SCV000113846	benign	not specified	2012-12-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081911	SCV000249418	benign	not specified	2017-11-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081911	SCV000316200	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551636	SCV000630884	benign	Cohen syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000551636	SCV000743192	benign	Cohen syndrome	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000551636	SCV000744235	likely benign	Cohen syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711301	SCV000841641	benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311686	SCV000846917	likely benign	Inborn genetic diseases	2016-06-21	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	RCV000711301	SCV001247886	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7, BS2
Illumina Laboratory Services, Illumina	RCV000551636	SCV001322251	benign	Cohen syndrome	2017-06-26	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000711301	SCV001897007	benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711301	SCV005223970	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000081911	SCV001921424	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000551636	SCV002082635	benign	Cohen syndrome	2019-12-06	no assertion criteria provided	clinical testing