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: chr7:50470090:G>A
 
ClinVar:           chr7:50470090:G>A
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter) SNV
Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003838905