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: chr14:87939926:A>T
 
ClinVar:           chr14:87939926:A>T 		NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) SNV
Pathogenic Condition: not provided
Galactosylceramide beta-galactosidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000482303RCV000411823
IndiGenomes: chr14:87968335:G>T
 
ClinVar:           chr14:87968335:G>A 		NM_000153.4(GALC):c.908C>T (p.Ser303Phe) SNV
Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

13 SubmittersRCV000285229RCV000522818