Submissions for variant NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)

gnomAD frequency: 0.00023  dbSNP: rs201650333

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081884	SCV000113819	uncertain significance	not provided	2012-11-02	criteria provided, single submitter	clinical testing
Counsyl	RCV000671667	SCV000796662	likely benign	Cohen syndrome	2017-12-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000671667	SCV001096843	likely benign	Cohen syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415579	SCV002726076	likely benign	Inborn genetic diseases	2017-09-26	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	RCV000081884	SCV005894334	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7
Natera, Inc.	RCV000671667	SCV001456249	uncertain significance	Cohen syndrome	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915093	SCV004734869	likely benign	VPS13B-related disorder	2021-08-11	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).