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: chr4:15991259:G>A
 
ClinVar:           chr4:15991259:G>T 		NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter) SNV
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002035347
IndiGenomes: chr4:15998435:C>A
 
ClinVar:           chr4:15998435:C>A 		NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV
Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2		 Criteria Provided
Conflicting Classifications

7 SubmittersRCV000225631RCV000488414RCV000765765