Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000534511 | SCV000652970 | 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 |
RCV001712517 | SCV001939028 | benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316721 | SCV004016545 | benign | Myeloproliferative disorder, chronic, with eosinophilia | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983122 | SCV004796112 | benign | PDGFRB-related disorder | 2022-06-08 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |