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: chr13:72998843:A>T
 
ClinVar:           chr13:72998843:GATTCTCGTTAAGATGCATAGTAAAC>G 		NM_006346.4(PIBF1):c.2076_2100del (p.Val693fs) Deletion
Likely pathogenic Joubert syndrome 33 Criteria Provided
Single Submitter

1 SubmittersRCV004699099