Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038963 | SCV000062641 | likely benign | not specified | 2008-06-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770263 | SCV000901695 | likely benign | Cardiomyopathy | 2016-04-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000831464 | SCV000973214 | likely benign | not provided | 2018-06-18 | 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 | RCV001482000 | SCV001686360 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770263 | SCV001736350 | likely benign | Cardiomyopathy | 2020-09-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381314 | SCV002688850 | likely benign | Cardiovascular phenotype | 2021-08-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |