Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Group at Institute of Prion Diseases London, |
RCV000736267 | SCV000864564 | likely pathogenic | Alzheimer disease | 2017-02-01 | criteria provided, single submitter | research | not on exac, big aminoacid change in size, deleterious mutations in both adjacent codons (with smaller aminoacid changes), predicted deleterious in silico, CADD phredd 35 |