Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Group at Institute of Prion Diseases London, |
RCV000736260 | SCV000864557 | likely pathogenic | Frontotemporal dementia | 2017-02-01 | criteria provided, single submitter | research | not on molgen, but in mutation hotspot. Not on exac, not on exome variant server. In silico predictions conflicting |