Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151230 | SCV000199097 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | c.-5C>A in Exon 03 of MYH6: This variant is not expected to have clinical signif icance because it has been identified in 1.8% (67/3738) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS;). |
Ambry Genetics | RCV000254039 | SCV000318585 | benign | Cardiovascular phenotype | 2016-01-11 | 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. |
Gene |
RCV000151230 | SCV000515470 | benign | not specified | 2016-11-21 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770464 | SCV000901907 | benign | Cardiomyopathy | 2017-08-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812124 | SCV001159389 | benign | not provided | 2019-11-20 | criteria provided, single submitter | clinical testing |