Table 1.

Approaches for Additional Analysis of Sequencing Results

	Case 1	Case 2	Case 3	Case 4
ES report	No causative variants identified	VUS in KCTD7	No causative variants identified	No causative variants identified
Reanalysis			Homozygous variant in ATP5F1D
GS report	Pathogenic variant in MRE11			Negative
Expanded report	Deletion in MRE11			Deletion in ARID1B
Internal variant curation	Deletion in MRE11	Compound heterozygous KCTD7 variant, splicing affect predicted	Homozygous variant in ATP5F1D	Deletion in ARID1B
Segregation studies		Performed	Performed
Case matching			Yes
Updated pedigree			Yes
Additional clinical studies	Deletion/duplication analysis with single exon resolution		Respiratory chain complex V analysis	Deletion/duplication analysis with single exon resolution
Functional studies		RNA sequencing, splicing assay	Model organism

ES=exome sequencing, GS=genome sequencing, VUS=variant of uncertain significance