Submissions for variant NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)

gnomAD frequency: 0.00016  dbSNP: rs368851580

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195038	SCV000249413	likely benign	not specified	2021-06-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315519	SCV000849179	likely benign	Inborn genetic diseases	2017-04-08	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.
Fulgent Genetics, Fulgent Genetics	RCV000765982	SCV000897408	uncertain significance	Cohen syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000765982	SCV001098904	likely benign	Cohen syndrome	2024-12-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706171	SCV004158265	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7
Natera, Inc.	RCV000765982	SCV001460389	uncertain significance	Cohen syndrome	2020-01-24	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706171	SCV001919582	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706171	SCV001970626	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917778	SCV004736569	likely benign	VPS13B-related disorder	2023-10-25	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).