Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000553381 | SCV000644993 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-10-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770537 | SCV000901984 | benign | Cardiomyopathy | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000553381 | SCV001288110 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 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. |
Color Diagnostics, |
RCV000770537 | SCV001347319 | likely benign | Cardiomyopathy | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001568859 | SCV001792802 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Identified in a patient with a cardiomyopathy with features of both HCM and LVNC who also harbored a frameshift variant in the DSC2 gene; this patient's unaffected brother harbored only the DSC2 frameshift variant suggesting these variants are in trans (PMID: 34819141); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34819141) |
Ambry Genetics | RCV002399511 | SCV002704940 | likely benign | Cardiovascular phenotype | 2019-12-26 | 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. |
Blueprint Genetics | RCV000143880 | SCV000188749 | likely benign | Primary dilated cardiomyopathy | 2014-06-18 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001568859 | SCV001978108 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001568859 | SCV001979488 | likely benign | not provided | no assertion criteria provided | clinical testing |