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: chr3:33068831:C>G
 
ClinVar:           chr3:33068831:C>G 		NM_000404.4(GLB1):c.385G>C (p.Glu129Gln) SNV
Likely pathogenic Infantile GM1 gangliosidosis Criteria Provided
Single Submitter

1 SubmittersRCV000984877
IndiGenomes: chr3:33068940:C>T
 
ClinVar:           chr3:33068940:C>T 		NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV
Pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV001091797RCV000670448RCV000766231RCV001387511
IndiGenomes: chr3:33072643:C>T
 
ClinVar:           chr3:33072643:C>G 		NM_000404.4(GLB1):c.146G>C (p.Arg49Pro) SNV
Likely pathogenic GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005023593RCV004586250