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Comparison of assertions in ClinVar for variants that result in identical amino acid change
| Benign | Uncertain significance | Pathogenic | |
|---|---|---|---|
| Benign | 70 | – | – |
| Uncertain significance | 31 | 140 | – |
| Pathogenic | 0 | 34 | 571 |
Note for simplicity the likely pathogenic and pathogenic variants were combined as well as likely benign and benign. The full list of variants and assertions is found in Supporting Information Table S1.
