|Clinical significance||Pathogenicity classes||Major Criteria|
- The variant affects the structure and function of the gene/protein.|
- The variant affects a gene in which similar variants are known to be disease-causing.
- The pathogenic nature of the variant is supported by epidemiological data, bioinformatic prediction and segregation analyses.
|Uncertain significance||Variant of unknown significance (VUS)||
- Not all parameters of pathogenicity are fulfilled.|
- Bioinformatics prediction of pathogenicity but without final confirmation.
|No clinical significance||
- Epidemiological and bioinformatics data indicate that the variant is not pathogenic.|
- These variants are commonly not reported but might be available on request.