Total 6 pathogenic variants reported for Multiminicore myopathy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	SNV Germline	Chr19:38458244	Pathogenic/Likely pathogenic	Multiminicore myopathy Condition: not provided Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA024327	rs_376526576	3 SubmittersRCV000148815 RCV003441757 RCV006445518
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)	SNV Germline	Chr19:38473411	Pathogenic/Likely pathogenic	Multiminicore myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Myopathy, RYR1-associated	Criteria Provided Multiple Submitters No Conflicts	CA024408	rs_150495044	8 SubmittersRCV000148817 RCV000721509 RCV000812631 RCV003998171 RCV004689626
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	SNV Germline	Chr19:38473488	Conflicting classifications of pathogenicity	Multiminicore myopathy Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA065302	rs_146407179	8 SubmittersRCV000509349 RCV001223356 RCV001703183 RCV004003564
NM_000540.3(RYR1):c.6274+1G>A	SNV Germline	Chr19:38492637	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Multiminicore myopathy Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405662693	rs_1226228092	8 SubmittersRCV000525713 RCV000721603 RCV000853333 RCV005018959 RCV004802184
NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter)	SNV Germline	Chr2:178560314	Pathogenic	Multiminicore myopathy	Criteria Provided Single Submitter	CA349547753	rs_1703164675	1 SubmittersRCV001260953