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Table 4 Stratification of findings by genes or variants

From: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

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

41 (0.4)

  1. ACMG American College of Medical Genetics and Genomics, CDC Centers for Disease Control and Prevention, HBOC hereditary breast and ovarian cancer, FH familial hypercholesterolemia
  2. 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)