Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juno Genomics, |
RCV004796394 | SCV005417895 | pathogenic | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | criteria provided, single submitter | clinical testing | PM2_Supporting+PS2_Supporting+PVS1+PS4_Supporting | |
Autoinflammatory diseases unit, |
RCV001261318 | SCV001438202 | pathogenic | Kabuki syndrome 1 | 2018-07-03 | no assertion criteria provided | clinical testing |