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- Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
- Polymorphism: No disease-association has been reported.
- Unclassified: Variants have been found in patients but disease-association remains unclear.
- Lowest score: -4 (low probability of substitution).
- Highest score: 11 (high probability of substitution).