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: chr5:149860929:C>T
 
ClinVar:           chr5:149860929:C>A 		NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) SNV
Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PDE6A-related disorder		 Criteria Provided
Conflicting Classifications

6 SubmittersRCV000306846RCV000414303RCV004816599RCV003932441