Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002286508 | SCV002576483 | likely pathogenic | Rett syndrome, congenital variant | 2022-09-26 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM1, PM2_SUP, PM5_SUP, PP2, PP3 |