Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229838 | SCV000291525 | likely benign | Legius syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444928 | SCV002682972 | likely benign | Cardiovascular phenotype | 2021-05-27 | 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. |
KCCC/NGS Laboratory, |
RCV000229838 | SCV004015554 | likely benign | Legius syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Service de Génétique Moléculaire, |
RCV001261037 | SCV001438438 | uncertain significance | Neurofibromatosis-Noonan syndrome | no assertion criteria provided | clinical testing |