Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041599 | SCV000065295 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Arg481Trp in exon 11 of SCN5A: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (29/3250) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs144511230). Arg481Trp in exon 11 of SCN5A ( rs144511230; allele frequency = 0.9%, 29/3250) ** |
Eurofins Ntd Llc |
RCV000041599 | SCV000225445 | benign | not specified | 2015-03-23 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000203074 | SCV000257776 | benign | Brugada syndrome 1; Long QT syndrome 3 | 2015-07-21 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000238622 | SCV000297006 | benign | Long QT syndrome 3; Brugada syndrome | 2015-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000249137 | SCV000318664 | benign | Cardiovascular phenotype | 2015-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Labcorp Genetics |
RCV000058424 | SCV000557128 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841588 | SCV000913722 | benign | Cardiac arrhythmia | 2018-10-20 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000471899 | SCV000987485 | benign | Brugada syndrome | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000058424 | SCV001157469 | benign | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001148783 | SCV001309694 | uncertain significance | Brugada syndrome 1 | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001148784 | SCV001309695 | likely benign | Dilated cardiomyopathy 1E | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001148785 | SCV001309696 | benign | Sick sinus syndrome 1 | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001148786 | SCV001309697 | uncertain significance | Ventricular fibrillation, paroxysmal familial, type 1 | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001148787 | SCV001309698 | likely benign | Long QT syndrome 3 | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001148788 | SCV001309699 | uncertain significance | Progressive familial heart block, type 1A | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000058424 | SCV001897919 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29874177, 15992732) |
All of Us Research Program, |
RCV001841588 | SCV004815030 | benign | Cardiac arrhythmia | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000058424 | SCV005074493 | benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | SCN5A: BS1, BS2 |
Cardiovascular Biomedical Research Unit, |
RCV000058424 | SCV000089944 | not provided | not provided | no assertion provided | literature only | This variant has been reported in the following publications (PMID:19841300;PMID:20129283). | |
Clinical Genetics, |
RCV000041599 | SCV001924599 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000041599 | SCV001958424 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000041599 | SCV001968917 | benign | not specified | no assertion criteria provided | clinical testing |