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: chr12:88049337:A>T ClinVar: chr12:88049337:A>ATACT	NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	Duplication	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	5 SubmittersRCV001229340 RCV001580574 RCV002504305 RCV003469403 RCV004545135
IndiGenomes: chr12:88055666:A>AT ClinVar: chr12:88055666:A>AT	NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	Duplication	Pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	10 SubmittersRCV000144468 RCV000457302 RCV001075551 RCV001276483 RCV002271421 RCV002483278 RCV003467204 RCV004975293 RCV005089670
IndiGenomes: chr12:88068585:G>GTA ClinVar: chr12:88068585:G>T	NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)	SNV	Pathogenic	Joubert syndrome 5	Criteria Provided Single Submitter	1 SubmittersRCV000201548
IndiGenomes: chr12:88071890:T>TA ClinVar: chr12:88071890:T>TA	NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)	Duplication	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	4 SubmittersRCV000656738 RCV001208507 RCV005010638 RCV003465425
IndiGenomes: chr12:88080402:T>C ClinVar: chr12:88080402:T>G	NM_025114.4(CEP290):c.5013-7A>C	SNV	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	2 SubmittersRCV000177954 RCV001496142