Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041182 | SCV000064873 | benign | not specified | 2011-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041182 | SCV000170745 | benign | not specified | 2013-01-31 | 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. |
Prevention |
RCV000041182 | SCV000315947 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000245136 | SCV000317424 | benign | Cardiovascular phenotype | 2015-03-11 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000041182 | SCV000740644 | benign | not specified | 2016-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000860033 | SCV000999943 | benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000041182 | SCV001740038 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000041182 | SCV001921432 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000041182 | SCV001966333 | benign | not specified | no assertion criteria provided | clinical testing |