Submissions for variant NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)

gnomAD frequency: 0.00068  dbSNP: rs145890213

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000259055	SCV000113854	likely benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000259055	SCV000153496	benign	not specified	2018-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293375	SCV000470832	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.
Fulgent Genetics, Fulgent Genetics	RCV000293375	SCV000611533	uncertain significance	Cohen syndrome	2017-05-23	criteria provided, single submitter	clinical testing
Invitae	RCV000293375	SCV000755402	benign	Cohen syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313812	SCV000849146	likely benign	Inborn genetic diseases	2018-09-19	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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000293375	SCV001440084	likely benign	Cohen syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000259055	SCV001475029	benign	not specified	2020-07-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000293375	SCV001652770	uncertain significance	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
New York Genome Center	RCV000293375	SCV002764536	uncertain significance	Cohen syndrome	2020-12-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705772	SCV004810461	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	VPS13B: BP4
Natera, Inc.	RCV000293375	SCV001461444	likely benign	Cohen syndrome	2020-06-05	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001705772	SCV001925793	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000259055	SCV001971471	benign	not specified		no assertion criteria provided	clinical testing