Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV001813568 | SCV002060896 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002065670 | SCV002347413 | likely benign | RASopathy | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003338848 | SCV004057913 | likely benign | Cardiovascular phenotype | 2023-07-29 | 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. |