Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002103570 | SCV002381666 | likely benign | Kabuki syndrome | 2025-01-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005008457 | SCV005636038 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-03-18 | criteria provided, single submitter | clinical testing |