Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655062 | SCV000776985 | likely benign | Dilated cardiomyopathy 1KK | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672923 | SCV001889620 | likely benign | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918) |
Ambry Genetics | RCV002422434 | SCV002724750 | likely benign | Cardiovascular phenotype | 2019-05-30 | 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. |