Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168951 | SCV000527783 | likely benign | not specified | 2016-05-12 | 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 | RCV000874802 | SCV001017030 | likely benign | Hypertrophic cardiomyopathy | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180806 | SCV001345827 | likely benign | Cardiomyopathy | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336386 | SCV002638276 | likely benign | Cardiovascular phenotype | 2020-06-29 | 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. |
Prevention |
RCV003927562 | SCV004748476 | likely benign | TNNI3-related condition | 2024-02-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |