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: chr11:17396980:C>T
 
ClinVar:           chr11:17396980:C>T 		NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) SNV
Conflicting classifications of pathogenicity Leucine-induced hypoglycemia
Condition: not provided
Type 2 diabetes mellitus
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000009666RCV001851770RCV003466845RCV005042020
IndiGenomes: chr11:17397014:G>A
 
ClinVar:           chr11:17397014:G>A 		NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) SNV
Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus
Type 2 diabetes mellitus		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000411306RCV002244849RCV003558361RCV002244850RCV003470332
IndiGenomes: chr11:17407394:G>A
 
ClinVar:           chr11:17407394:G>A 		NM_000352.6(ABCC8):c.2880C>T (p.Ser960=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000932188RCV002251533RCV002251532
IndiGenomes: chr11:17414577:T>C
 
ClinVar:           chr11:17414577:GT>G 		NM_000352.6(ABCC8):c.2325del (p.Lys775fs) Deletion
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002880977
IndiGenomes: chr11:17443277:G>A
 
ClinVar:           chr11:17443277:G>A 		NM_000352.6(ABCC8):c.1368C>T (p.Leu456=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
not specified		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000952428RCV001276284RCV002253711RCV002253710RCV005236477