Variant Identifiers	ClinVar Name	Variant Type	Clinical Significance	Phenotype Condition	Review Status	Variation/condition record
Indigenome VS ClinVar IDs	Relevant information available in ClinVar
IndiGenomes: chr14:21303414:C>T ClinVar: chr14:21303414:GC>G	NM_020366.4(RPGRIP1):c.673del (p.His225fs)	Deletion	Pathogenic/Likely pathogenic	Leber congenital amaurosis 6 Retinal dystrophy Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Multiple Submitters No Conflicts	5 SubmittersRCV000761349 RCV001074662 RCV001335049 RCV003768292
IndiGenomes: chr14:21317744:G>A ClinVar: chr14:21317744:G>A	NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=)	SNV	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	2 SubmittersRCV000301537 RCV000390467 RCV005213261