Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001426045 | SCV001628690 | likely benign | Charcot-Marie-Tooth disease dominant intermediate C | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003320836 | SCV004025698 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |