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: chr2:232480717:C>A
 
ClinVar:           chr2:232480717:C>A 		NM_004826.4(ECEL1):c.2151+1G>T SNV
Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 SubmittersRCV001354049