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: chr16:172981:C>T
 
ClinVar:           chr16:172981:GC>G 		NM_000517.6(HBA2):c.69del (p.Glu24fs) Deletion
Pathogenic/Likely pathogenic Condition: not provided
Erythrocytosis, familial, 7
alpha Thalassemia
Hemoglobin H disease
Heinz body anemia
alpha Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000507788RCV005010451RCV001027962
IndiGenomes: chr16:173008:G>A
 
ClinVar:           chr16:173008:G>A 		NM_000517.6(HBA2):c.95+1G>A SNV
Pathogenic not specified
Condition: not provided
alpha Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001000976RCV000507864RCV001829445
IndiGenomes: chr16:173484:T>G
 
ClinVar:           chr16:173484:T>C 		NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) SNV
Pathogenic/Likely pathogenic alpha Thalassemia
Hemoglobin H disease
Heinz body anemia
alpha Thalassemia
Erythrocytosis, familial, 7		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000991152RCV005021292