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: chr11:68906198:C>G ClinVar: chr11:68906198:C>G	NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)	SNV	Pathogenic	Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S	Criteria Provided Single Submitter	1 SubmittersRCV001038862