Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001576331 | SCV001803494 | likely benign | not provided | 2018-07-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002066916 | SCV002380516 | likely benign | Hypertrophic cardiomyopathy | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302962 | SCV003998002 | likely benign | Cardiovascular phenotype | 2023-05-21 | 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. |
Diagnostic Laboratory, |
RCV000607461 | SCV000734071 | likely benign | Hypertrophic cardiomyopathy 17 | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001700245 | SCV001917803 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001576331 | SCV001959199 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001576331 | SCV001969551 | likely benign | not provided | no assertion criteria provided | clinical testing |