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: chr19:47000627:C>T
 
ClinVar:           chr19:47000627:AC>A
NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs) Deletion
Pathogenic Irido-corneo-trabecular dysgenesis Criteria Provided
Single Submitter

1 SubmittersRCV002460353