Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001925097 | SCV002176982 | benign | Kabuki syndrome | 2024-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004779181 | SCV005391685 | uncertain significance | not provided | 2024-11-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 29445290) |
Fulgent Genetics, |
RCV005006196 | SCV005636771 | benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-17 | criteria provided, single submitter | clinical testing |