Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, |
RCV001248845 | SCV001193440 | uncertain significance | Ogden syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | The Asn101Lys variant in NAA10 has not been reported in individuals with disease, and was absent from large population studies. In summary, the Asn101Lys variant meets our criteria to be classified as of uncertain significance based upon segregation studies and absence from controls. |