Top bar

Top bar contents

The top bar of the Curate Variant page shows the key identifying details of the variant and its current pathogenicity classification.

Small variants

Top bar of the Curate Variant page for a small variant.

For small variants, including mtDNA variants, the top bar highlights:

• Clickable gene symbol linked to the gene page in Curate Genes
• Variant type: SNV, small ins, or small del
• Genomic position and nucleotide change
• HGVS variant description
• Main variant effect
• Pathogenicity classification

CNVs

Top bar of the Curate Variant page for a copy number variant.

For copy number variants, the top bar highlights:

• For each involved gene, a clickable gene symbol linked to the gene page in Curate Genes
• Variant type: DEL or DUP
• Genomic range and variant length
• Pathogenicity classification

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How to update curated variant pathogenicity

1

In the top bar of the Curate Variant page, select Pathogenicity.

2

From the dropdown, select the classification you want to assign to the variant.

Result: The pathogenicity classification is updated for the variant and used in future case annotations.