Case quality section

The Case quality section summarizes the data quality of the case and highlights the results of validation checks:

• Chromosome validation

  Confirms that each chromosome with at least 100 SNVs in defined enrichment kit or coding regions includes at least one high-quality variant

• gnomAD validation

  Verifies that each chromosome with at least 100 SNVs in defined enrichment kit or coding regions includes at least one variant annotated with gnomAD

• ClinVar validation

  Ensures that each chromosome with at least 100 SNV variants in defined enrichment kit or coding regions includes at least one variant annotated with ClinVar

• AI Shortlist validation

  Checks that at least one variant is tagged by the AI Shortlist.

  • This validation is not applicable if the gene list contains fewer than 50 genes

  • If your workgroup uses a higher threshold, it is reflected in the Gene list threshold field

• mtDNA reference validation Confirms that the rCRS reference is used for mitochondrial DNA