Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juno Genomics, |
RCV004795614 | SCV005417059 | pathogenic | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1+PS2_Supporting |