Seemingly wrong ClinVar annotation for chr17:7676154:G->C

KarchinLab / open-cravat

A modular annotation tool for genomic variants

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Seemingly wrong ClinVar annotation for chr17:7676154:G->C #101

Closed BoPeng closed 2 years ago

BoPeng commented 2 years ago

I was curious what exactly does "drug response" mean for the annotation of Chr17:7676154:C->G so I checked the record of 12351 of clinvar. The page does not show any drug for current and previous annotations so I am wondering why "drug response" was returned for this variant.

rkimoakbioinformatics commented 2 years ago

@BoPeng Thanks for letting us know. Indeed it was a bug. I have just updated clinvar with the newest 2022/03/06 data and the issue does not exist in it. Please update the clinvar module (with oc module update clinvar or through the OpenCRAVAT GUI) to version 2022.03.06 and try that one.

BoPeng commented 2 years ago

Thanks. I can confirm that the issue has been resolved.