Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151796 | SCV000200257 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Arg523Arg in Exon 12 of SCN5A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 1.1% (37/3408) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs41313693). |
Invitae | RCV000713133 | SCV000291779 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000373129 | SCV000444147 | uncertain significance | Paroxysmal familial ventricular fibrillation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000280959 | SCV000444148 | uncertain significance | Long QT syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000319566 | SCV000444149 | uncertain significance | Congenital long QT syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000376534 | SCV000444150 | uncertain significance | Progressive familial heart block | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000227443 | SCV000444151 | uncertain significance | Brugada syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000341319 | SCV000444152 | uncertain significance | Sick sinus syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000407616 | SCV000444153 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619072 | SCV000736342 | benign | Cardiovascular phenotype | 2016-08-22 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Athena Diagnostics Inc | RCV000713133 | SCV000843704 | benign | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842473 | SCV000904517 | benign | Cardiac arrhythmia | 2018-08-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713133 | SCV001840921 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000713133 | SCV002048404 | benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000713133 | SCV001744903 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000151796 | SCV001923507 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000151796 | SCV001968668 | benign | not specified | no assertion criteria provided | clinical testing |