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: chr19:12891912:C>T
 
ClinVar:           chr19:12891912:C>A 		NM_000159.4(GCDH):c.209C>A (p.Thr70Asn) SNV
Conflicting classifications of pathogenicity Glutaric aciduria, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000941197RCV003233885
IndiGenomes: chr19:12893515:T>C
 
ClinVar:           chr19:12893515:T>C 		NM_000159.4(GCDH):c.367T>C (p.Tyr123His) SNV
Pathogenic Glutaric aciduria, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003873989
IndiGenomes: chr19:12896201:C>T
 
ClinVar:           chr19:12896201:CCCAGGAT>C 		NM_000159.4(GCDH):c.636-3_639del Deletion
Likely pathogenic Glutaric aciduria, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV000588698