Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473971 | SCV000557964 | likely benign | Hypertrophic cardiomyopathy | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603346 | SCV000729208 | likely benign | not specified | 2017-07-31 | 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. |
Color Diagnostics, |
RCV000772084 | SCV000905116 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350013 | SCV002648132 | likely benign | Cardiovascular phenotype | 2020-07-14 | 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. |
Cohesion Phenomics | RCV000473971 | SCV003803701 | benign | Hypertrophic cardiomyopathy | 2022-09-27 | no assertion criteria provided | clinical testing |