Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000991854 | SCV001143680 | likely pathogenic | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/189336 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in a likely critical domain of the protein. |
Inherited Neuropathy Consortium | RCV000789805 | SCV000929189 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |