Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002106488 | SCV002440760 | likely benign | RASopathy | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346482 | SCV002621434 | likely benign | Cardiovascular phenotype | 2022-06-02 | 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- |
RCV002468405 | SCV002763555 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468404 | SCV002763556 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |