Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262720 | SCV001440691 | uncertain significance | Meckel syndrome, type 3 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001706725 | SCV001934536 | uncertain significance | Joubert syndrome 6 | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Al Jalila Children’s Genomics Center, |
RCV002508797 | SCV002818156 | likely pathogenic | not provided | 2022-12-17 | criteria provided, single submitter | clinical testing |