Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559534 | SCV000646084 | benign | Progressive familial heart block type IB | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621064 | SCV000735419 | likely benign | Cardiovascular phenotype | 2016-06-14 | 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. |
Gene |
RCV001584300 | SCV001811062 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing |