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: chr1:68438228:G>A
 
ClinVar:           chr1:68438228:G>A 		NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser) SNV
Conflicting classifications of pathogenicity RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002466805RCV004720366RCV005227782
IndiGenomes: chr1:68439640:T>A
 
ClinVar:           chr1:68439640:T>A 		NM_000329.3(RPE65):c.646A>T (p.Lys216Ter) SNV
Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2		 Criteria Provided
Single Submitter

1 SubmittersRCV003804670
IndiGenomes: chr1:68444672:C>CTGTTTGTAATGAATATCCAGGAGTCCATA
 
ClinVar:           chr1:68444672:C>A 		NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) SNV
Pathogenic Leber congenital amaurosis 2
RPE65-related recessive retinopathy		 Reviewed By Expert Panel

2 SubmittersRCV001089893RCV004595861