[ensembl-dev] ClinVar Review Status

Sarah Hunt seh at ebi.ac.uk
Mon Aug 13 14:12:28 BST 2018


Hi Michael,

The ClinVar ReviewStatus isn't available in the cache, but can be 
accessed using the Phenotypes plugin:

https://github.com/Ensembl/VEP_plugins/blob/release/93/Phenotypes.pm

This returns all attributes for all phenotypes with optional filtering 
by data source. It is only available when using json output format 
currently as each variant can return a large amount of data which 
doesn't fit well in VCF. We could extend the filtering and enable small 
numbers of attributes to be added to VCF.

Best wishes,

Sarah

On 11/08/2018 18:26, Michael Yourshaw wrote:
> VEP provides the annotation CLIN_SIG : ClinVar clinical significance 
> of the dbSNP variant
>
> Is there a direct way to get the ClinVar ReviewStatus from VEP?
>
> If not, is ClinVar ReviewStatus available somewhere in the VEP 
> cache/database so that it could easily be retreived with a VEP plugin?
>
>
>
>> Michael Yourshaw
> myourshaw at gmail.com <mailto:myourshaw at ucla.edu>
>
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