Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000908781 | SCV001053561 | 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 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692321 | SCV001914175 | benign | not provided | 2020-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958280 | SCV004768571 | likely benign | PDGFRB-related condition | 2020-01-13 | 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). |