Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035787 | SCV000059438 | likely benign | not specified | 2009-04-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035787 | SCV000729188 | benign | not specified | 2017-03-15 | 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. |
Invitae | RCV000865155 | SCV001006081 | benign | Hypertrophic cardiomyopathy | 2024-01-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000035787 | SCV001160390 | benign | not specified | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001188894 | SCV001356067 | benign | Cardiomyopathy | 2018-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444469 | SCV002733161 | benign | Cardiovascular phenotype | 2020-03-27 | 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. |