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: chr15:89633241:T>C
 
ClinVar:           chr15:89633241:CT>C
NM_198525.3(KIF7):c.2618del (p.Gln873fs) Deletion
Likely pathogenic Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Criteria Provided
Single Submitter

1 SubmittersRCV005012149