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: chr1:42747722:C>T
 
ClinVar:           chr1:42747722:C>T
NM_022356.4(P3H1):c.1914+1G>A SNV
Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003494626

IndiGenomes: chr1:42750250:G>T
 
ClinVar:           chr1:42750250:G>T
NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter) SNV
Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

2 SubmittersRCV000001318