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: chr3:180654761:C>T
 
ClinVar:           chr3:180654761:C>T 		NM_181426.2(CCDC39):c.930+1G>A SNV
Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV003647352
IndiGenomes: chr3:180663926:G>A
 
ClinVar:           chr3:180663926:G>A 		NM_181426.2(CCDC39):c.151C>T (p.Arg51Ter) SNV
Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005200840