Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001522985 | SCV001732629 | benign | Congenital myasthenic syndrome 15 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587461 | SCV001825021 | likely benign | not provided | 2019-12-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001522985 | SCV004049482 | benign | Congenital myasthenic syndrome 15 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003346602 | SCV004049483 | benign | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003346603 | SCV004049484 | benign | Myopathy, epilepsy, and progressive cerebral atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing |