Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001182901 | SCV001348500 | likely benign | Cardiomyopathy | 2019-10-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002536761 | SCV001674605 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000867548 | SCV002008763 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307618 | SCV003997070 | 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. |