An automatic tool for the classification of PVS1 variants.
Useful links:
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
- Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- LOVD
For further information, please refer to the documentation.