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: chr3:81586094:G>T
 
ClinVar:           chr3:81586094:G>A 		NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter) SNV
Pathogenic Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic		 Criteria Provided
Single Submitter

1 SubmittersRCV001978972