Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001289095 | SCV001476685 | uncertain significance | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001863152 | SCV002157770 | benign | Kabuki syndrome | 2024-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001289095 | SCV002540342 | uncertain significance | not provided | 2021-12-30 | 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 published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29627316) |
Fulgent Genetics, |
RCV005012719 | SCV005636442 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-03-26 | criteria provided, single submitter | clinical testing |