Submissions for variant NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)

gnomAD frequency: 0.00312  dbSNP: rs142476821

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081872	SCV000113807	benign	not specified	2014-04-15	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081872	SCV000297276	likely benign	not specified	2015-11-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361059	SCV000470859	likely benign	Cohen syndrome	2018-01-12	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.
Genetic Services Laboratory, University of Chicago	RCV000081872	SCV000597900	benign	not specified	2018-04-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710109	SCV000616264	likely benign	not provided	2018-02-14	criteria provided, single submitter	clinical testing
Invitae	RCV000361059	SCV000630857	benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000710109	SCV000715025	likely benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23352163)
Ambry Genetics	RCV002313806	SCV000849183	likely benign	Inborn genetic diseases	2021-11-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV000710109	SCV004032826	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VPS13B: BS2
PreventionGenetics, part of Exact Sciences	RCV003964938	SCV004795943	likely benign	VPS13B-related disorder	2019-09-12	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.	RCV000361059	SCV001454477	likely benign	Cohen syndrome	2020-01-14	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000710109	SCV001739589	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710109	SCV001797896	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000710109	SCV001920003	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710109	SCV001929814	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710109	SCV001971054	likely benign	not provided		no assertion criteria provided	clinical testing