Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001560757 | SCV001783228 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | In-frame DUPLICATION of 7 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge |
Institute of Human Genetics, |
RCV001843593 | SCV002103091 | uncertain significance | Schaaf-Yang syndrome | 2021-09-06 | criteria provided, single submitter | clinical testing | PM4 |