Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000200366 | SCV000253452 | likely benign | RASopathy | 2023-05-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354559 | SCV002623358 | likely benign | Cardiovascular phenotype | 2020-10-23 | 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- |
RCV002467663 | SCV002763198 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467662 | SCV002763200 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |