Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000426832 | SCV000225382 | uncertain significance | not provided | 2015-04-07 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000239145 | SCV000297277 | uncertain significance | not specified | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000375746 | SCV000470768 | uncertain significance | 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, 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. |
Center for Pediatric Genomic Medicine, |
RCV000426832 | SCV000511792 | likely benign | not provided | 2016-12-09 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Labcorp Genetics |
RCV000375746 | SCV000755419 | likely benign | Cohen syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000426832 | SCV000780921 | uncertain significance | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000375746 | SCV001529778 | uncertain significance | Cohen syndrome | 2018-01-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV000375746 | SCV001652732 | uncertain significance | Cohen syndrome | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000426832 | SCV001823659 | likely benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399624 | SCV002704401 | uncertain significance | Inborn genetic diseases | 2020-01-29 | criteria provided, single submitter | clinical testing | The p.H520R variant (also known as c.1559A>G), located in coding exon 10 of the VPS13B gene, results from an A to G substitution at nucleotide position 1559. The histidine at codon 520 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000375746 | SCV003820423 | uncertain significance | Cohen syndrome | 2022-06-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000375746 | SCV001454806 | likely benign | Cohen syndrome | 2020-09-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003982923 | SCV004796295 | likely benign | VPS13B-related disorder | 2022-01-28 | no assertion criteria provided | 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). |