Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000036771 | SCV000050832 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000036771 | SCV000060426 | benign | not specified | 2011-11-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000036771 | SCV000111253 | benign | not specified | 2013-07-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000036771 | SCV000306064 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000249038 | SCV000317771 | benign | Cardiovascular phenotype | 2015-03-11 | 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. |
Illumina Laboratory Services, |
RCV001093882 | SCV000356323 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2017-04-27 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000265774 | SCV000356324 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001093882 | SCV000554555 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000036771 | SCV000740441 | benign | not specified | 2016-07-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000030426 | SCV000902590 | benign | Cardiomyopathy | 2018-03-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001642246 | SCV001158943 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001642246 | SCV001861129 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25773045, 30403697, 27153395, 27663074, 18326664, 19926015, 20408814, 24025405) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030426 | SCV000053095 | benign | Cardiomyopathy | 2013-03-01 | no assertion criteria provided | clinical testing |