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: chr17:8072842:G>T
 
ClinVar:           chr17:8072842:G>T 		NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) SNV
Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided

1 SubmittersRCV001289926