Table 6.

Highest probability, incorrectly matched variants identified by more than one submission.

SID# (incorrectly attributed patients)	Correct genome (patient) - Category	Genomic position (hg19)	Gene	Disorders	Transcript	Nucleotide change	Protein change	gnomAD frequency	Classification
2(97-O); 3(97-O); 4(97-W); 8(67-C)	97(D) -Connective, 67(M) - Eye	7:128040571:G:A	IMPDH1	Retinitis pigmentosa 10, Leber congenital amaurosis 11	NM_000883.4	c.602C>T	p.Thr201Met	0.002% (0.013% in AA)	VUS
3(78-S); 4(78-Q); 6.1(78Q)	78(V) - Connective	7:94049587:C:T	COL1A2	Ehlers-Danlos syndrome, Osteogenesis imperfecta	NM_000089.3	c.2122C>T	p.Arg708Trp	0.001%	VUS
6.1(9-V); 6.2(9-V)	9(W) - Eye	1:2235335:C:T	SKI	Shprintzen-Goldberg syndrome	NM_003036.4	c.1268C>T	p.Pro423Leu	0.001% (0.002% EU)	VUS
1 (95-H&M); 6.2(95-M)	95(C) - Eye	11:76905405:G:A	MYO7A	Usher syndrome, type 1B	NM_000260.4	c.4159G>A	p.Asp1387Asn	0.001% (0.007% AA)	VUS
6.1(39-K); 6.2(39-R)	39(P) - Neurologic	15:49089695:G:A	CEP152	Seckel syndrome 5, primary microcephaly 9	NM_001194998.2	c.343C>T	p.Arg115Ter	0.0004% (0.003% Lat.)	Pathogenic
6.1(79-F); 6.2(79-F)	79(K) - Connective	15:90174856:T:C	KIF7	Acrocallosal syndrome, Joubert syndrome 12	NM_198525.3	c.2981A>G	p.Gln994Arg	0.165% (0.306% Lat.) 2 homozygous	VUS
3(21-V); 4(21-T)	21(G) - Neurologic	X:153579297:T:C	FLNA	FLNA-related disorders	NM_001110556.2	c.7136A>G	p.Tyr2379Cys	none	VUS

Variants in this table may have been identified in additional submissions, but only highest probability variants per genome were considered (3 equal matches allowed).