Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494385 | SCV000581749 | uncertain significance | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001360458 | SCV001556374 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-04-07 | criteria provided, single submitter | clinical testing |