Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698315 | SCV000533668 | likely benign | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177693 | SCV001341948 | likely benign | Cardiomyopathy | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063551 | SCV002485988 | likely benign | Hypertrophic cardiomyopathy | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168694 | SCV003855342 | likely benign | Cardiovascular phenotype | 2023-02-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |