Table 4.
Stratification of findings by genes or variants
| All findings | Number (%) |
|---|---|
| Individuals with reportable findings | 1619 (15.5) |
| Yield after excluding biallelic HFE and SERPINA1 findings | 1423 (13.6) |
| Yield after excluding F2 and F5 findings and genes in the row above | 973 (9.3) |
| Yield after excluding MUTYH heterozygotes and genes in rows above | 829 (7.9) |
| Yield after excluding CHEK2 p.Ile157Thr and p.Ser428Phe heterozygotes, NBN heterozygotes (except for the NBN c.657_661delACAAA variant), and genes in rows above | 746 (7.1) |
| Yield after excluding increased risk alleles (APC p.I1307K, HOXB13 p.Gly84Glu) and genes or variants in rows above | 649 (6.2) |
| Findings in 59 genes prescribed by the ACMG | |
| Individuals with reportable findings in the 59 ACMG genes | 542 (5.2) |
| Yield after excluding MUTYH heterozygotes and increased risk alleles | 326 (3.1) |
| Findings in CDC Tier 1 genes | |
| All reportable findings in genes associated with HBOC, FH, and Lynch syndrome | 205 (2.0) |
| HBOC findings only | 114 (1.1) |
| Lynch syndrome findings only | 51 (0.5) |
| FH findings only | 40 (0.4) |
ACMG American College of Medical Genetics and Genomics, CDC Centers for Disease Control and Prevention, HBOC hereditary breast and ovarian cancer, FH familial hypercholesterolemia
Stratification of results in the 59 genes prescribed by the ACMG is done by incrementally removing specific categories of gene groups (shown in successive rows) that are excluded per ACMG secondary findings guidelines. Similarly, stratification of results from CDC Tier 1 genes is shown based on different disease categories: HBOC syndrome (BRCA1 and BRCA2), Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, and PMS2), and FH (APOB gain-of-function variants, LDLR, and PCSK9)