Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001398391 | SCV001600160 | likely benign | Myofibrillar myopathy 4 | 2023-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169977 | SCV003909129 | likely benign | Cardiovascular phenotype | 2023-01-08 | 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724310 | SCV001951256 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724310 | SCV001966316 | likely benign | not provided | no assertion criteria provided | clinical testing |