alterlab-clinvar

SKILLWorkflowcommunity
v0.0.0AlterLab-IEUMITUpdated 1mo agoSource →

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a varian

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59Repo stars
1Clients
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1mo agoLast update
Skill
AuthorAlterLab-IEU
Version0.0.0
LicenseMIT
CategoryWorkflow
Formatsskill.md
PromptNot published
Compatibility
Claude✓ Supported
Cursor
Copilot
ChatGPT
Gemini
About

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a variant is pathogenic, likely pathogenic, VUS, likely benign, or benign, resolving conflicting interpretat

Keywords
skillclaude