Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001269154 | SCV001448421 | likely benign | not specified | 2020-11-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001490648 | SCV001695218 | likely benign | Noonan syndrome 9 | 2019-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451633 | SCV002615631 | likely benign | Cardiovascular phenotype | 2021-08-07 | 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- |
RCV001490648 | SCV002762986 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing |