Submissions for variant NM_152564.5(VPS13B):c.4225-6G>A

gnomAD frequency: 0.00019  dbSNP: rs199755508

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000353863	SCV000340192	uncertain significance	not provided	2016-03-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000332517	SCV000470804	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000332517	SCV000755414	likely benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519246	SCV003742097	uncertain significance	Inborn genetic diseases	2022-04-13	criteria provided, single submitter	clinical testing	The c.4300-6G>A intronic alteration consists of a G to A substitution 6 nucleotides before exon 29 (coding exon 28) of the VPS13B gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000332517	SCV001456851	likely benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000353863	SCV001921519	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000353863	SCV001975509	likely benign	not provided		no assertion criteria provided	clinical testing