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: chr3:94036664:G>A
 
ClinVar:           chr3:94036664:G>A 		NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) SNV
Pathogenic/Likely pathogenic Joubert syndrome and related disorders
Joubert syndrome 8
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

6 SubmittersRCV000256476RCV001859504RCV001092355