Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001478518 | SCV001682789 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2023-05-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298839 | SCV003996037 | likely benign | Cardiovascular phenotype | 2023-05-01 | 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. |
All of Us Research Program, |
RCV004007141 | SCV004844795 | likely benign | Hypertrophic cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001729919 | SCV001978746 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001729919 | SCV001980007 | benign | not specified | no assertion criteria provided | clinical testing |