Submissions for variant NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)

gnomAD frequency: 0.00066  dbSNP: rs112634620

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000390959	SCV000332716	uncertain significance	not provided	2015-07-16	criteria provided, single submitter	clinical testing
Invitae	RCV001079204	SCV000630886	likely benign	Cohen syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002401976	SCV002670575	likely benign	Inborn genetic diseases	2017-12-20	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.
PreventionGenetics, part of Exact Sciences	RCV003939947	SCV004751889	likely benign	VPS13B-related disorder	2020-10-12	criteria provided, single submitter	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).
Natera, Inc.	RCV001079204	SCV001460979	likely benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000390959	SCV001978823	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000390959	SCV001979957	likely benign	not provided		no assertion criteria provided	clinical testing