Table 1.

List of recessive cases with known disease-causing genes identified by reanalysis.

Individual ID	Gene	HGVS_g (GRCh37)	Variants	Segregation	Variant identification	ACMG/AMP Codes	Pathogenicity	Diagnosis (#OMIM)
1 (BEG_1599-01)	RYR1	NC_000019.9:g.38943477_38943478insCGGGAAGCCA	NM_000540.3:c.1263_1264insCGGGAAGCCA, (p.Gly422Argfs*86)	Maternal	Initial finding	PVS1, PM2, PM3	P	Minicore myopathy with external ophthalmoplegia (#255320)
		NC_000019.9:g.38985003_38985004insGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCC	NM_000540.3: c.6286_6287ins57, (p.Glu2096delins20)	Paternal	Reanalysis	PM2, PM3, PM4	LP
2 (MAN_2163-01)	BBS1	NC_000011.9:g.66293650_66293652del	NM_024649.5:c.1167_1169del, (p.Ile389del)	Maternal	Initial finding	PM2, PM3, PM4	LP	Bardet-Biedl syndrome (#209900)
		NC_000011.9:g.66293652 T > G	NM_024649.5:c.1169 T > G, (p.Met390Arg)	Paternal	Reanalysis	PS3, PS4, PM2, PP3	P

P pathogenic; LP likely pathogenic.