Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV003883397 | SCV004697824 | likely pathogenic | Genitopatellar syndrome | 2024-03-01 | criteria provided, single submitter | clinical testing | |
Undiagnosed Diseases Network, |
RCV004759337 | SCV005368698 | likely pathogenic | KAT6B-related disorder | 2023-12-19 | no assertion criteria provided | clinical testing |