Submissions for variant NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)

gnomAD frequency: 0.00213  dbSNP: rs144257406

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081904	SCV000113839	benign	not specified	2013-10-11	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224363	SCV000281137	benign	not provided	2015-06-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335614	SCV000470813	likely benign	Cohen syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000335614	SCV000630877	benign	Cohen syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311683	SCV000847003	benign	Inborn genetic diseases	2017-04-04	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.
GeneDx	RCV000224363	SCV001837002	benign	not provided	2019-03-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000335614	SCV001456857	benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing