Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721392 | SCV000532399 | likely benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861522 | SCV001001865 | benign | Primary dilated cardiomyopathy | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393032 | SCV002702482 | likely benign | Cardiovascular phenotype | 2018-12-20 | 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. |
Ce |
RCV001721392 | SCV004152124 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | TXNRD2: BP4, BP7 |