Submissions for variant NM_152564.5(VPS13B):c.3667-7C>T

gnomAD frequency: 0.03607  dbSNP: rs35543295

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081895	SCV000113830	benign	not specified	2012-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081895	SCV000316193	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302317	SCV000470795	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000302317	SCV000630871	benign	Cohen syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000302317	SCV000743188	benign	Cohen syndrome	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000302317	SCV000744231	benign	Cohen syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711296	SCV000841636	benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000302317	SCV001748566	benign	Cohen syndrome	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711296	SCV001889117	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711296	SCV005267276	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081895	SCV000153488	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000302317	SCV000734589	benign	Cohen syndrome		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000302317	SCV001456844	benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing