Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586151 | SCV000696353 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000867318 | SCV001008529 | likely benign | Hypertrophic cardiomyopathy | 2023-06-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189445 | SCV001356738 | likely benign | Cardiomyopathy | 2019-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653937 | SCV001871441 | likely benign | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331003 | SCV002628752 | likely benign | Cardiovascular phenotype | 2021-05-25 | 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. |