Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952399 | SCV001098899 | 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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683699 | SCV001901241 | benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001683699 | SCV004157357 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PDGFRB: BS1, BS2 |