Table 4.

Interpretation of 616 HGMD-Classified Pathogenic Variants from NHLBI ESP6500

Clinical Significance	InterVar (Automated Interpretation)	ESP6500 Team (Manual Interpretation)	Concordant
Benign	5	0	0
Likely benign	261	137	77
Likely pathogenic	30	38	2
Pathogenic	3	32	0
Uncertain significance	317	409	234
Sum of five tiers	616	616	313
Benign or likely benign	266	137	79
Pathogenic or likely pathogenic	33	70	6