Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001765041 | SCV001989606 | uncertain significance | not provided | 2022-12-02 | 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 a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 35326522) |
Fulgent Genetics, |
RCV002496084 | SCV002800878 | uncertain significance | Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002540233 | SCV003514673 | likely benign | Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing |