Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171804 | SCV000050812 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000234242 | SCV000291910 | benign | Brugada syndrome 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000171804 | SCV000317157 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000619181 | SCV000735209 | benign | Cardiovascular phenotype | 2015-11-10 | 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. |
Genome Diagnostics Laboratory, |
RCV000234242 | SCV000743847 | benign | Brugada syndrome 4 | 2016-05-12 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852604 | SCV000995307 | benign | Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy; Supraventricular tachycardia; Ventricular tachycardia | 2019-03-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000234242 | SCV001158909 | benign | Brugada syndrome 4 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706114 | SCV001861467 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000171804 | SCV001924803 | benign | not specified | no assertion criteria provided | clinical testing |