Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222550 | SCV000269896 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Leu470Met in exon 22 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 25.2% (572/2268) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs6569336). |
Prevention |
RCV000222550 | SCV000311372 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000222550 | SCV000338938 | benign | not specified | 2016-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000222550 | SCV000521406 | 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 | RCV000618188 | SCV000735168 | benign | Cardiovascular phenotype | 2015-07-15 | 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. |
Invitae | RCV002517459 | SCV001730344 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000222550 | SCV004222963 | likely benign | not specified | 2023-11-20 | criteria provided, single submitter | clinical testing |