Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410829 | SCV001612881 | 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 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003433139 | SCV004157346 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | PDGFRB: BP4, BP7 |
Prevention |
RCV003946080 | SCV004763813 | likely benign | PDGFRB-related condition | 2023-01-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |