Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001916316 | SCV002179424 | likely benign | Kabuki syndrome | 2022-12-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005002660 | SCV002784948 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-04-20 | criteria provided, single submitter | clinical testing |