Variant Identifiers	ClinVar Name	Variant Type	Clinical Significance	Phenotype Condition	Review Status	Variation/condition record
Indigenome VS ClinVar IDs	Relevant information available in ClinVar
IndiGenomes: chr2:46950368:T>A ClinVar: chr2:46950368:CT>C	NM_020458.4(TTC7A):c.192del (p.Phe64fs)	Deletion	Pathogenic/Likely pathogenic	Multiple gastrointestinal atresias Gastrointestinal defects and immunodeficiency syndrome 1	Criteria Provided Multiple Submitters No Conflicts	2 SubmittersRCV001383525 RCV002488204