Submissions for variant NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)

gnomAD frequency: 0.00170  dbSNP: rs111353525

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154132	SCV000203796	benign	not specified	2014-02-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000154132	SCV000597895	likely benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316976	SCV000850239	likely benign	Inborn genetic diseases	2022-05-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871803	SCV001013521	benign	Cohen syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000871803	SCV001321007	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003430714	SCV004158277	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	VPS13B: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV003430714	SCV005223979	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000871803	SCV002082732	benign	Cohen syndrome	2019-12-16	no assertion criteria provided	clinical testing