Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000949206 | SCV001095453 | 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 | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001796825 | SCV004157358 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PDGFRB: BP4, BP7 |
Laboratory of Diagnostic Genome Analysis, |
RCV001796322 | SCV002035509 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001796825 | SCV002038146 | likely benign | not provided | no assertion criteria provided | clinical testing |