Submissions for variant NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)

gnomAD frequency: 0.00215  dbSNP: rs145547375

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081870	SCV000113805	uncertain significance	not provided	2013-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311677	SCV000846865	benign	Inborn genetic diseases	2016-06-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081615	SCV001018514	likely benign	Cohen syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081615	SCV001716357	likely benign	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001081615	SCV001454469	likely benign	Cohen syndrome	2020-01-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974982	SCV004797340	likely benign	VPS13B-related disorder	2019-05-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).