Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507851 | SCV001713670 | likely pathogenic | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Inherited Neuropathy Consortium Ii, |
RCV003447324 | SCV004174389 | uncertain significance | Cutis laxa, autosomal dominant | 2019-10-03 | no assertion criteria provided | literature only |