Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001866526 | SCV002117602 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002489959 | SCV002780116 | uncertain significance | Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001866526 | SCV004136905 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | LTBP2: BP4, BP7 |