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: chr6:135466281:C>T
 
ClinVar:           chr6:135466281:C>T
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) SNV
Conflicting classifications of pathogenicity Joubert syndrome 3
Joubert syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV000331656RCV001464785