Table 1.

Odds and frequency estimate confidence intervals per ACMG/AMP clinical data evidence category

Evidence category	Estimated benign evidence frequency (low, medium, high)	Estimated pathogenic evidence frequency (low, medium, high)	Pathogenicity odds of evidence
PS2	(0.0001, 0.0015, 0.005)	(0.0006, 0.003, 0.02)	18.7
PM6	(0.0007, 0.0035, 0.01)	(0.0014, 0.007, 0.025)	4.3
PP1	(0.005, 0.01, 0.0625)	(0.05, 0.23, 0.67)	2.08
BS4	(0.025, 0.1, 0.4863)	(0.0001, 0.001, 0.17)	1/18.7
BP5	(0.038, 0.099, 0.36)	(0.00002, 0.0001, 0.00215)	1/2.08
BP2	(1.0 * f, 1.0 * f, 1.0 * f)	(0.001 * f, 0.005 * f, 0.02 * f)	1/2.08

Note: The variable f represents the frequency of the variant itself.

Abbreviations: ACMG: American College of Medical Genetics; AMP: Association for Molecular Pathology.