Scout: Clin Var - positive feedback!

Created on 31 Mar 2021  路  1Comment  路  Source: Clinical-Genomics/scout

Hi,
I just want you to know that yesterday we received the first e-mail through ClinVar from a doctor asking about one of the variant we submitted to CLinVAr and classified as pathogenic after WGS analysis and mRNA work characterization

This make all our work even more worth :)

picture 4WGH
🚀3 😄3 👍2 🎉1

Most helpful comment

Sharing really helps! Also good for boosting more research into these disorders: we've been contacted with requests to add patients to publication cohorts for detailed genotype-phenotype mapping.

picture dnil on 31 Mar 2021
🚀3

>All comments

Sharing really helps! Also good for boosting more research into these disorders: we've been contacted with requests to add patients to publication cohorts for detailed genotype-phenotype mapping.

dnil picture dnil on 31 Mar 2021
🚀3
Was this page helpful?
0 / 5 - 0 ratings

Related issues

northwestwitch picture northwestwitch  路  3Comments
1ctw picture 1ctw  路  5Comments
keyvanelhami picture keyvanelhami  路  5Comments
4WGH picture 4WGH  路  3Comments
heronikdin picture heronikdin  路  4Comments