Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000317439 | SCV000805165 | uncertain significance | Timothy syndrome | 2018-04-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034179 | SCV001197509 | likely benign | Long QT syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338886 | SCV002641509 | likely benign | Cardiovascular phenotype | 2022-04-04 | 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. |
Genome Diagnostics Laboratory, |
RCV001701945 | SCV001930304 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701945 | SCV001973094 | likely benign | not provided | no assertion criteria provided | clinical testing |