Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618359 | SCV000734899 | likely benign | Cardiovascular phenotype | 2016-09-19 | 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 | RCV002528811 | SCV001611498 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525565 | SCV001735721 | likely benign | Cardiomyopathy | 2020-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712719 | SCV001945595 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001712719 | SCV002497004 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7 |