Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000263851 | SCV000372368 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000318985 | SCV000372369 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000373599 | SCV000372370 | uncertain significance | Left ventricular noncompaction cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000318985 | SCV001664693 | likely benign | Hypertrophic cardiomyopathy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525475 | SCV001735600 | likely benign | Cardiomyopathy | 2020-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298366 | SCV004001246 | likely benign | Cardiovascular phenotype | 2023-03-18 | 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. |