Submissions for variant NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)

gnomAD frequency: 0.00072  dbSNP: rs139436386

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081874	SCV000113809	likely benign	not specified	2014-12-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388483	SCV000470865	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV000081874	SCV000597903	likely benign	not specified	2017-05-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000081874	SCV000841626	benign	not specified	2019-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313807	SCV000848035	likely benign	Inborn genetic diseases	2016-10-05	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.
Invitae	RCV000388483	SCV001013006	likely benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000388483	SCV001712297	likely benign	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705771	SCV004184742	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7
Natera, Inc.	RCV000388483	SCV001462039	likely benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081874	SCV001919048	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705771	SCV001930410	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705771	SCV001964437	likely benign	not provided		no assertion criteria provided	clinical testing