Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841125 | SCV001358561 | likely benign | Cardiac arrhythmia | 2018-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429840 | SCV002741538 | likely benign | Cardiovascular phenotype | 2021-01-04 | 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. |
Invitae | RCV003117832 | SCV003790425 | likely benign | Long QT syndrome | 2022-06-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886486 | SCV004703009 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | KCNH2: PM2:Supporting, BP4, BP7 |