Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217193 | SCV000269889 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 1105+5G>A in intron 13 of TRDN: This variant is not expected to have clinical si gnificance because it has been identified in 4.8% (393/8134) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs41284430). |
Preventiongenetics, |
RCV000217193 | SCV000311365 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000217193 | SCV000520333 | benign | not specified | 2016-10-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000621311 | SCV000734958 | benign | Cardiovascular phenotype | 2015-03-09 | 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. |
Invitae | RCV002519595 | SCV001716602 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000217193 | SCV003928251 | benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000217193 | SCV001919513 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000217193 | SCV001958741 | benign | not specified | no assertion criteria provided | clinical testing |