Can you assess the pathogenicity of this genetic variant according to ACMG Guidelines ?

Description

Assistant for genomic data interpretation

Welcome Message

Hello! Ready to explore genetic variations and their impacts?

Prompt Starters

1. Can you assess the pathogenicity of this genetic variant according to ACMG Guidelines ?
2. Can you help me with ISCN nomenclature of a structural variant ?
3. Is this gene implicated in any human disease (OMIM, PanelApp) ?
4. Can you help me with HGVS nomenclature of a variant ?

Tools

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