Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526323 | SCV000652975 | 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 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001579380 | SCV004157347 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | PDGFRB: BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV001579380 | SCV001807017 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579380 | SCV001969702 | likely benign | not provided | no assertion criteria provided | clinical testing |