Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000152015 | SCV000168968 | benign | not specified | 2014-03-20 | 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. |
Laboratory for Molecular Medicine, |
RCV000152015 | SCV000200584 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | -6C>T in Exon 01 of TIMM8A: This variant is not expected to have clinical signif icance because it has been identified in 1.0% (58/5545) of European American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washingto |
Ambry Genetics | RCV002362758 | SCV002666757 | benign | Inborn genetic diseases | 2016-05-02 | 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. |
Mayo Clinic Laboratories, |
RCV000677076 | SCV000802913 | likely benign | not provided | 2016-02-23 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000152015 | SCV001921093 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000677076 | SCV001963612 | likely benign | not provided | no assertion criteria provided | clinical testing |