Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001508126 | SCV001714068 | likely pathogenic | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | PS4_moderate, PM1, PM2, PP2, PP3, PP4 |
Collagen Diagnostic Laboratory, |
RCV000087600 | SCV000120490 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |