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: chr17:6623016:G>C ClinVar: chr17:6623016:G>A	NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)	SNV	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Joubert syndrome Condition: not provided Orofaciodigital syndrome XV Jeune thoracic dystrophy Short-rib thoracic dysplasia 21 without polydactyly Short-rib thoracic dysplasia 21 without polydactyly Orofaciodigital syndrome XV	Criteria Provided Multiple Submitters No Conflicts	8 SubmittersRCV000590973 RCV001269779 RCV002248721 RCV000984622 RCV001559335 RCV005355989