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: chr1:230236716:C>T
 
ClinVar:           chr1:230236716:C>T
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter) SNV
Pathogenic Congenital disorder of glycosylation, type iit
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001095798RCV003442203