Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr1:197328873:T>C
 
ClinVar:           chr1:197328873:T>A 		NM_201253.3(CRB1):c.522T>A (p.Cys174Ter) SNV
Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001047854RCV005012478
IndiGenomes: chr1:197328898:T>G
 
ClinVar:           chr1:197328898:T>C 		NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) SNV
Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001353026RCV001862532RCV001074004
IndiGenomes: chr1:197328916:G>A
 
ClinVar:           chr1:197328916:G>T 		NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) SNV
Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001912801RCV003475151
IndiGenomes: chr1:197421741:C>T
 
ClinVar:           chr1:197421741:C>T 		NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) SNV
Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000505040RCV001854256RCV004566911
IndiGenomes: chr1:197477853:C>A
 
ClinVar:           chr1:197477853:AC>A 		NM_201253.3(CRB1):c.4199del (p.Pro1400fs) Deletion
Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12		 Criteria Provided
Single Submitter

1 SubmittersRCV005211455