Submissions for variant NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)

gnomAD frequency: 0.00016  dbSNP: rs147710096

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242414	SCV000316186	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325729	SCV000470867	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.
Invitae	RCV000325729	SCV001015493	benign	Cohen syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000325729	SCV002084997	likely benign	Cohen syndrome	2019-10-25	no assertion criteria provided	clinical testing