Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841167 | SCV001360024 | likely benign | Cardiac arrhythmia | 2020-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003658865 | SCV003784757 | likely benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003293974 | SCV003997050 | likely benign | Cardiovascular phenotype | 2023-04-03 | 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. |