Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659823 | SCV000781685 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002066964 | SCV002378303 | likely benign | Kabuki syndrome | 2024-10-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005010645 | SCV005636760 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-12 | criteria provided, single submitter | clinical testing |