Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV001584192 | SCV004225257 | uncertain significance | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | BP4 |
| Gene |
RCV001584192 | SCV001814076 | likely benign | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000619222 | SCV000735870 | likely benign | Cardiovascular phenotype | 2024-07-05 | 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. |
| Labcorp Genetics |
RCV000463865 | SCV000563298 | likely benign | Dilated cardiomyopathy 1KK | 2025-01-12 | criteria provided, single submitter | clinical testing |