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Overview of the collected data set. VUS = ACMG/AMP variant of uncertain significance, pathogenic = ACMG/AMP (likely) pathogenic, n = 29,317, overview gene content = Table A ∗overall = Hereditary Cancer Syndromes – Comprehensive panel (123 genes).
| variant detection rate n | variant detection rate % | total % | |
|---|---|---|---|
| Internal HBOC panel VUS | 4.102 | 13.99 % | 26.67 % |
| Internal HBOC panel pathogenic | 3.718 | 12.68 % | |
| overall VUS∗ | 5.983 | 20.41 % | 34.85 % |
| overall pathogenic∗ | 4.235 | 14.44 % |
