Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721335 | SCV000529962 | benign | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173869 | SCV001336985 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002059808 | SCV002410756 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502562 | SCV002812411 | likely benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2021-09-27 | criteria provided, single submitter | clinical testing |