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: chr1:155235819:C>T
 
ClinVar:           chr1:155235819:C>T 		NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter) SNV
Likely pathogenic Gaucher disease Criteria Provided
Single Submitter

2 SubmittersRCV000780283
IndiGenomes: chr1:155239937:G>A
 
ClinVar:           chr1:155239937:G>A 		NM_000157.4(GBA1):c.256C>T (p.Arg86Ter) SNV
Pathogenic Gaucher disease Criteria Provided
Single Submitter

1 SubmittersRCV001779515