Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001724739 | SCV001949997 | likely pathogenic | Loeys-Dietz syndrome 2 | 2022-09-27 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM1, PM5, PM2_SUP, PP3, PP4 |