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: chr6:116617083:C>T
 
ClinVar:           chr6:116617083:C>T
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) SNV
Pathogenic Primary ciliary dyskinesia 11
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000000532RCV000226196RCV005252651