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: chr14:67727151:A>G
 
ClinVar:           chr14:67727151:A>G 		NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) SNV
Pathogenic/Likely pathogenic Leber congenital amaurosis 13
RDH12-related disorder
Macular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV001255717RCV004735926RCV000993749