Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146231 | SCV000193472 | uncertain significance | Kabuki syndrome 1 | 2013-03-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000516606 | SCV000613945 | likely benign | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001501756 | SCV001706573 | likely benign | Kabuki syndrome | 2024-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001657838 | SCV001873762 | uncertain significance | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state in a male patient with sagittal craniosynostosis (Clarke et al., 2018); Reported in the heterozygous state in a patient with Kabuki syndrome however, further clinical information and information about parental testing were not provided (Faundes et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30459467, 29168297) |
Fulgent Genetics, |
RCV005008054 | SCV005635928 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-03-07 | criteria provided, single submitter | clinical testing |