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: chr15:42388928:G>A ClinVar: chr15:42388928:G>C	NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	SNV	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	6 SubmittersRCV000339333 RCV000667247 RCV004999223
IndiGenomes: chr15:42389091:A>G ClinVar: chr15:42389091:CA>C	NM_000070.3(CAPN3):c.796del (p.Ile266fs)	Deletion	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	1 SubmittersRCV001054867
IndiGenomes: chr15:42394296:G>A ClinVar: chr15:42394296:G>A	NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	SNV	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	7 SubmittersRCV000493163 RCV000667745 RCV001731719 RCV005010411
IndiGenomes: chr15:42394325:G>A ClinVar: chr15:42394325:G>A	NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	SNV	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	9 SubmittersRCV000537811 RCV002491061 RCV002282221 RCV003144340 RCV003476295
IndiGenomes: chr15:42410958:G>C ClinVar: chr15:42410958:G>C	NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	SNV	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	13 SubmittersRCV000176251 RCV000386470 RCV003474930 RCV005008101
IndiGenomes: chr15:42411750:C>G ClinVar: chr15:42411750:C>G	NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)	SNV	Conflicting classifications of pathogenicity	not specified Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	2 SubmittersRCV003236283 RCV004572890