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: chr11:5225662:A>T
 
ClinVar:           chr11:5225662:A>G 		NM_000518.5(HBB):c.380T>C (p.Val127Ala) SNV
Conflicting classifications of pathogenicity HEMOGLOBIN BEIRUT
Condition: not provided
not specified
8 conditions		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000016260RCV001284157RCV001778654RCV005049341
IndiGenomes: chr11:5226745:C>CAGAT
 
ClinVar:           chr11:5226745:C>CAGAT 		NM_000518.5(HBB):c.143_146dup (p.Thr51fs) Duplication
Pathogenic Condition: not provided
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000508077RCV001078409
IndiGenomes: chr11:5226929:C>A
 
ClinVar:           chr11:5226929:C>T 		NM_000518.5(HBB):c.92+1G>A SNV
Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
8 conditions
Erythrocytosis, familial, 6
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts

32 SubmittersRCV000016694RCV000020340RCV000390929RCV001004350RCV001329338RCV002288501RCV005051735RCV004819209RCV005003368RCV005357131RCV004975260