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: chr1:209788590:G>A
 
ClinVar:           chr1:209788590:G>A
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV
Pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome
Condition: not provided
Van der Woude syndrome
Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000556227RCV000684776RCV001584247RCV003314608