VarioML/VarioML — Issue #5: documentation issues
Author: jmuilu
Created: 2011-10-20 08:53:04+00:00
State: open

genbank is used as source for refSeqs
HGNC is use as a source for Hugo symbols (not accession codes)

gen2phen is used as source for the pathogenicity list, which contains terms (please check)
* Non-pathogenic
* Not known
* Pathogenic
* Probably not pathogenic
* Probably pathogenic
* Causative
* Probably causative
* Unclassified

source CMGS_VGKL_5 has following (from Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) Clinical Molecular Genetics:
Certainly not pathogenic
Unlikely to be pathogenic but cannot be formally proven
Likely to be pathogenic but cannot be formally proven
Certainly pathogenic
Unknown