Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001484605 | SCV001689024 | likely benign | Noonan syndrome 8 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000871557 | SCV001803801 | likely benign | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352581 | SCV002655377 | likely benign | Cardiovascular phenotype | 2020-12-08 | 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. |
Genome- |
RCV001484605 | SCV004050430 | likely benign | Noonan syndrome 8 | 2023-04-11 | criteria provided, single submitter | clinical testing |