Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707155 | SCV000836239 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-02-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003327453 | SCV004034911 | uncertain significance | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |