Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002526085 | SCV000637614 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777850 | SCV000913852 | likely benign | Cardiomyopathy | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000994310 | SCV001147764 | likely benign | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000994310 | SCV001791572 | likely benign | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395359 | SCV002673783 | likely benign | Cardiovascular phenotype | 2019-10-15 | 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. |