Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000351550 | SCV000476638 | uncertain significance | Congenital Myasthenic Syndrome, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000871757 | SCV001013468 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-28 | criteria provided, single submitter | clinical testing |