Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001289398 | SCV001477184 | likely pathogenic | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Located in a critically important domain of the protein. |
Inherited Neuropathy Consortium | RCV000789929 | SCV000929314 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |