Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035457 | SCV000059105 | likely benign | not specified | 2010-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035457 | SCV000722788 | likely benign | not specified | 2017-09-11 | 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 | RCV002054563 | SCV002323286 | likely benign | Hypertrophic cardiomyopathy | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415460 | SCV002723584 | likely benign | Cardiovascular phenotype | 2021-06-08 | 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. |