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: chr6:5613216:G>T
 
ClinVar:           chr6:5613216:G>T
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) SNV
Pathogenic Combined oxidative phosphorylation defect type 14 No Assertion Criteria Provided

1 SubmittersRCV001250395