Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000590663 | SCV000567279 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590663 | SCV000697612 | benign | not provided | 2016-02-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776314 | SCV000911635 | likely benign | Cardiomyopathy | 2018-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002525799 | SCV001002249 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395150 | SCV002701750 | likely benign | Cardiovascular phenotype | 2019-09-27 | 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. |