Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001172577 | SCV001335640 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001586018 | SCV001811482 | likely benign | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068057 | SCV002337333 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2023-11-20 | criteria provided, single submitter | clinical testing |