Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036278 | SCV000059930 | likely benign | not specified | 2012-06-04 | criteria provided, single submitter | clinical testing | Pro82Pro in exon 5 of TNNI3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Pro82Pro in exon 5 of TNNI3 (allele frequency = n/a) |
Gene |
RCV000036278 | SCV000520165 | likely benign | not specified | 2017-03-30 | 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, |
RCV000769530 | SCV000900925 | likely benign | Cardiomyopathy | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769530 | SCV001351787 | likely benign | Cardiomyopathy | 2019-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054584 | SCV002475805 | likely benign | Hypertrophic cardiomyopathy | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444470 | SCV002733922 | likely benign | Cardiovascular phenotype | 2022-08-29 | 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. |