Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002136209 | SCV002464192 | likely benign | Dilated cardiomyopathy 1KK | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409580 | SCV002716112 | likely benign | Cardiovascular phenotype | 2021-12-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |