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: chr2:31533690:T>C
 
ClinVar:           chr2:31533690:T>G 		NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) SNV
Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000706218