Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000039429 | SCV000055307 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039429 | SCV000063113 | benign | not specified | 2013-01-14 | criteria provided, single submitter | clinical testing | Ala897fs in exon 16 of DSC2: This variant is not expected to have clinical signi ficance because it has been identified in 1.3% (111/8254) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/). This variant leads to a frameshift starting at pos ition 897 and a subsequent truncation that removes the terminal amino acid of th e DSC2 protein. Although it was initially reported in 3 Caucasian individuals wi th ARVC probands while absent from 400 ethnically matched control alleles, it ha s subsequently been detected in several control cohorts at frequencies that argu e against a disease causing role (0.8%-1.5%, see http://arvcdatabase.info). The overall frequency of this variant strongly argues against a primary disease-caus ing role, although we cannot rule out that it may modify disease severity when p resent with other disease-causing variants. |
Gene |
RCV000181132 | SCV000233409 | benign | Cardiomyopathy | 2014-09-25 | criteria provided, single submitter | clinical testing | The variant is found in ARVC, ARRHYTHMIA panel(s). |
Genomic Diagnostic Laboratory, |
RCV000202657 | SCV000258195 | benign | Arrhythmogenic right ventricular cardiomyopathy | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000018343 | SCV000290733 | benign | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000039429 | SCV000314303 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000253786 | SCV000318356 | benign | Cardiovascular phenotype | 2013-03-15 | criteria provided, single submitter | clinical testing | No disease association in appropriately sized case-control study(ies) |
Genome Diagnostics Laboratory, |
RCV000018343 | SCV000743488 | benign | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 2015-12-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000018343 | SCV000744754 | benign | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000181132 | SCV000901975 | benign | Cardiomyopathy | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Color | RCV000181132 | SCV000910598 | benign | Cardiomyopathy | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845558 | SCV000987687 | benign | not provided | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000018343 | SCV000038622 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 2010-07-01 | no assertion criteria provided | literature only | |
EGL Genetic Diagnostics, |
RCV000039429 | SCV000114145 | benign | not specified | 2013-05-31 | no assertion criteria provided | clinical testing | |
Blueprint Genetics | RCV000157178 | SCV000206902 | benign | Primary familial hypertrophic cardiomyopathy | 2013-11-08 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000018343 | SCV000733770 | benign | Arrhythmogenic right ventricular cardiomyopathy, type 11 | no assertion criteria provided | clinical testing |