Submissions for variant NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)

gnomAD frequency: 0.00025  dbSNP: rs201483764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000301920	SCV000336089	benign	not specified	2015-10-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382470	SCV000470868	likely benign	Cohen syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000382470	SCV001097921	benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338836	SCV002641377	benign	Inborn genetic diseases	2018-12-20	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.
Natera, Inc.	RCV000382470	SCV001454491	likely benign	Cohen syndrome	2020-06-06	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706413	SCV001922111	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706413	SCV001971648	likely benign	not provided		no assertion criteria provided	clinical testing