Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001943639 | SCV002194148 | benign | Kabuki syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005006239 | SCV005636035 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-03-04 | criteria provided, single submitter | clinical testing |