Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_206926.2(SELENON):c.1A>G (p.Met1Val)	SNV Germline	Chr1:25800231	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA253168	rs_121908184	8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)	SNV Germline	Chr1:25809753	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy SEPN1-related disorder Congenital myopathy 4A, autosomal dominant Eichsfeld type congenital muscular dystrophy SELENON-related myopathy Malignant tumor of esophagus Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA223589	rs_121908188	28 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	SNV Germline	Chr1:154167938	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA232703	rs_199474720	4 SubmittersRCV000013260 RCV000128708 RCV000707046
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:154191925	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA232705	rs_80358248	5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	SNV Germline	Chr1:154172971	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4A, autosomal dominant Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion See cases	Criteria Provided Multiple Submitters No Conflicts	CA144541	rs_121964852	10 SubmittersRCV000013263 RCV000128701 RCV000054415 RCV000537032 RCV001420249
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)	SNV Germline	Chr1:154176194	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA232679	rs_121964853	3 SubmittersRCV000013267 RCV000128697 RCV003151724
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	SNV Germline	Chr1:154172972	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant TPM3-related core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA232686	rs_121964854	7 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725 RCV004585998
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	SNV Germline	Chr1:154172972	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4A, autosomal dominant Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Inborn genetic diseases Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA144544	rs_121964854	15 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000637291 RCV000624745 RCV004585999
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024311	rs_118192172	32 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024784	rs_28933397	13 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	SNV Germline	Chr19:38443612	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Clubfoot EMG abnormality Lower limb amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	SNV Germline	Chr1:229432020	Pathogenic/Likely pathogenic	Actin accumulation myopathy ACTA1-related myopathies Condition: not provided Congenital myopathy with fiber type disproportion Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy Congenital myopathy 2b, severe infantile, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA258136	rs_121909523	6 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV002504811 RCV003151732
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)	SNV Germline	Chr1:229431830	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA341495	rs_121909529	3 SubmittersRCV000019951 RCV001028007 RCV003151734
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)	SNV Germline	Chr1:229432134	Likely pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA341497	rs_121909530	4 SubmittersRCV000019952 RCV001851954 RCV003151735
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	SNV Germline	Chr1:229431633	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant Alpha-actinopathy Progressive scapulohumeroperoneal distal myopathy	Reviewed By Expert Panel	CA341499	rs_121909531	5 SubmittersRCV000019953 RCV002513127 RCV003151736 RCV005252692 RCV004767013
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Germline	Chr19:38451846	Likely pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023960	rs_118192117	3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)	SNV Germline	Chr19:38566953	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Single Submitter	CA024049	rs_143849895	2 SubmittersRCV000034927 RCV004808560
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)	SNV Germline	Chr19:38485988	Pathogenic	Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Single Submitter	CA024506	rs_367543055	2 SubmittersRCV000034928 RCV003591635
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)	SNV Germline	Chr1:229432867	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344554	rs_367543049	3 SubmittersRCV000034933 RCV000807360 RCV005234924
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	SNV Germline	Chr1:229433100	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344557	rs_367543048	3 SubmittersRCV000034934 RCV000693406 RCV001198948
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)	SNV Germline	Chr1:154176220	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Single Submitter	CA232676	rs_199474713	3 SubmittersRCV000034942 RCV000128696
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_206926.2(SELENON):c.103G>C (p.Gly35Arg)	SNV Germline	Chr1:25800333	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA223578	rs_398124359	10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680
NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys)	SNV Germline	Chr1:25815599	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA223586	rs_200128474	10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024118	rs_193922868	12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	SNV Germline	Chr19:38457546	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Reviewed By Expert Panel	CA024313	rs_193922772	9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002222024 RCV002222025 RCV002222026 RCV002477305
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Acute rhabdomyolysis	Reviewed By Expert Panel	CA024494	rs_193922781	17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy	Reviewed By Expert Panel	CA024693	rs_193922803	14 SubmittersRCV000119682 RCV000578408 RCV000803469 RCV000763425 RCV001787994 RCV001787999 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV002281944 RCV004017408 RCV004813060
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024738	rs_193922809	16 SubmittersRCV000119695 RCV001127650 RCV001236218 RCV001788008 RCV001788010 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV002492410 RCV004019662 RCV004556734
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024744	rs_193922810	7 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Condition: not provided Multi-minicore disease and atypical periodic paralysis Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease RYR1-related disorder Hydrops fetalis Central core myopathy Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	SNV Germline	ChrX:150659665	Pathogenic/Likely pathogenic	Severe X-linked myotubular myopathy Condition: not provided Spastic paraplegia Centronuclear myopathy Congenital myopathy with fiber type disproportion Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA271769	rs_587783772	9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	SNV Germline	Chr19:38459253	Conflicting classifications of pathogenicity	Myopathy, RYR1-associated not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Condition: not provided not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease See cases King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	19 SubmittersRCV000148819 RCV000534955 RCV000520385 RCV000501380 RCV000855482 RCV001198313 RCV003998172 RCV004017422 RCV004797783 RCV004767091 RCV005406848
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023934	rs_377178986	14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	SNV Germline	Chr14:23424876	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy 1 Condition: not provided Myopathy Hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Cardiomyopathy Cardiovascular phenotype 6 conditions Myosin storage myopathy MYH7-related skeletal myopathy Dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy	Criteria Provided Multiple Submitters No Conflicts	CA012656	rs_2754158	21 SubmittersRCV000201448 RCV000225738 RCV000415053 RCV000457606 RCV001198295 RCV001524491 RCV002453490 RCV002505152 RCV003333032 RCV003333030 RCV003333029 RCV003333031 RCV003448270 RCV004771464
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	SNV Germline	Chr14:23426810	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA011560	rs_727503263	13 SubmittersRCV000461116 RCV000620591 RCV000770495 RCV000766426 RCV001197245 RCV001258093
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:154172927	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion TPM3-related myopathy	Criteria Provided Conflicting Classifications	CA235008	rs_727504181	3 SubmittersRCV000154017 RCV002516101 RCV002514966
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	SNV Germline	Chr14:23430634	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy Cardiomyopathy Congenital myopathy with fiber type disproportion Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016961	rs_730880923	10 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160 RCV005443032
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	SNV Germline	Chr19:38505910	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024923	rs_144777676	10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	SNV Germline	Chr19:38561329	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023986	rs_772494345	4 SubmittersRCV000721273 RCV002492793 RCV003591696
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)	SNV Germline	Chr19:38565378	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	5 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000540.3(RYR1):c.14304-6C>A	SNV Germline	Chr19:38578138	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	SNV Germline	Chr1:229431844	Conflicting classifications of pathogenicity	not specified Familial restrictive cardiomyopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion ACTA1-related disorder	Criteria Provided Conflicting Classifications	CA208117	rs_140074813	4 SubmittersRCV000194143 RCV001099821 RCV001099822 RCV001099823 RCV003947591
NM_206926.2(SELENON):c.313G>A (p.Ala105Thr)	SNV Germline	Chr1:25805153	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA207149	rs_201692549	10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	SNV Germline	Chr19:38502946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy not specified RYR1-related disorder Condition: not provided Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Exercise-induced myalgia Myalgia Elevated circulating creatine kinase concentration Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Pathogenic	Inborn genetic diseases Condition: not provided Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy	Reviewed By Expert Panel	CA053108	rs_111436401	11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)	SNV Germline	Chr19:38534781	Conflicting classifications of pathogenicity	Malignant hypothermia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA056720	rs_146361173	9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	SNV Germline	Chr1:229432575	Likely pathogenic	Condition: not provided Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion Actin accumulation myopathy Alpha-actinopathy	Reviewed By Expert Panel	CA1442883	rs_371410845	4 SubmittersRCV000261100 RCV001814140 RCV002519066 RCV004813085
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)	SNV Germline	Chr1:25809150	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Multiple Submitters No Conflicts	CA696660	rs_199564797	9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311
NM_206926.2(SELENON):c.1613C>A (p.Thr538Asn)	SNV Germline	Chr1:25815660	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA696975	rs_183272965	7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033
NM_152263.4(TPM3):c.*1152C>T	SNV Germline	Chr1:154166785	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA10607729	rs_535068015	1 SubmittersRCV000265463 RCV000364785
NM_152263.4(TPM3):c.*5594G>T	SNV Germline	Chr1:154162343	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA10607842	rs_550606876	1 SubmittersRCV000263606 RCV000316425
NM_152263.4(TPM3):c.495+7G>C	SNV Germline	Chr1:154173077	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125707	rs_749792884	2 SubmittersRCV000342262 RCV000390605 RCV002059333
NM_152263.4(TPM3):c.327T>G (p.Thr109=)	SNV Germline	Chr1:154176165	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125742	rs_764255899	2 SubmittersRCV000301387 RCV000394360 RCV000875762
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)	SNV Germline	Chr1:154169355	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125508	rs_762511246	2 SubmittersRCV000285057 RCV000377153 RCV002059332
NM_152263.4(TPM3):c.378-13C>T	SNV Germline	Chr1:154173214	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125717	rs_367548433	2 SubmittersRCV000297760 RCV000336326 RCV002059334
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	SNV Germline	Chr1:229433008	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442937	rs_143948837	2 SubmittersRCV000289010 RCV000325221 RCV000378765
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	SNV Germline	Chr19:38499718	Pathogenic/Likely pathogenic	Delayed gross motor development Congenital contracture Short stature Proximal amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043555	rs_1057518940	3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254
NM_152263.4(TPM3):c.831C>T (p.His277=)	SNV Germline	Chr1:154169328	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA1125504	rs_781032589	2 SubmittersRCV000415940 RCV001418356
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)	SNV Germline	Chr19:38504269	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA071182	rs_138325444	7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	SNV Germline	Chr14:23424817	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16609633	rs_1060505018	7 SubmittersRCV000477668 RCV001197233 RCV002466513 RCV004023097
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Conflicting classifications of pathogenicity	Hypotonia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA405643333	rs_113460156	5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827
NM_152263.4(TPM3):c.43G>C (p.Asp15His)	SNV Germline	Chr1:154191976	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA342587512	rs_1553251644	3 SubmittersRCV000503601 RCV000806717 RCV000727596
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_152263.4(TPM3):c.455C>T (p.Ala152Val)	SNV Germline	Chr1:154173124	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA342584351	rs_1553249076	2 SubmittersRCV000522047 RCV001857960
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Pathogenic	Condition: not provided Inborn genetic diseases RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA073621	rs_776697656	9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Uterine corpus endometrial carcinoma Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA060836	rs_142929172	8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)	SNV Germline	Chr1:154170417	Pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342582852	rs_1553248515	1 SubmittersRCV000524673
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	SNV Germline	Chr1:229431508	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442703	rs_142311664	2 SubmittersRCV000546819 RCV001096304 RCV001096305
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	SNV Germline	Chr19:38483429	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	SNV Germline	Chr19:38585967	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405692312	rs_1432807966	7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA066855	rs_202225176	3 SubmittersRCV000526099 RCV002483516 RCV003133373
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)	SNV Germline	Chr19:38496276	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA308104063	rs_745432757	2 SubmittersRCV000558724 RCV002506378
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	SNV Germline	Chr19:38444167	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066047	rs_151325948	9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380
NM_152263.4(TPM3):c.643-3C>T	SNV Germline	Chr1:154170714	Conflicting classifications of pathogenicity	not specified Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA1125562	rs_529845435	3 SubmittersRCV000606959 RCV001860277 RCV003139912
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	SNV Germline	Chr19:38505851	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA072049	rs_775492883	5 SubmittersRCV000626286 RCV003133414 RCV002529788 RCV004802305
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	SNV Germline	Chr19:38452838	Conflicting classifications of pathogenicity	Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	SNV Germline	Chr19:38517520	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	SNV Germline	Chr1:154176194	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342585012	rs_121964853	1 SubmittersRCV000637290
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)	SNV Germline	Chr19:38517532	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided not specified King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA082842	rs_1568507354	3 SubmittersRCV000678325 RCV002493120 RCV003591771
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405674053	rs_1456276440	6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220
NM_000257.4(MYH7):c.5560-2A>C	SNV Germline	Chr14:23414104	Likely pathogenic	MYH7-related skeletal myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA389034986	rs_1566521710	1 SubmittersRCV000681617 RCV001199131
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)	SNV Germline	Chr19:38565438	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA507355614	rs_1357186643	2 SubmittersRCV000703165 RCV002499265
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA891844342	rs_1199304403	2 SubmittersRCV000695461 RCV002499246
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)	SNV Germline	Chr19:38460545	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA063399	rs_146754847	7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066054	rs_747718728	8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595
NM_206926.2(SELENON):c.1010G>A (p.Gly337Asp)	SNV Germline	Chr1:25811710	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Conflicting Classifications	CA696769	rs_745886248	7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417
NM_000540.3(RYR1):c.767G>A (p.Arg256His)	SNV Germline	Chr19:38446735	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069967	rs_772767943	7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	SNV Germline	Chr19:38469026	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder not specified Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064845	rs_201174268	9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA405654623	rs_1568484835	4 SubmittersRCV000721586 RCV001036189 RCV002493289
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073057	rs_372702492	5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	SNV Germline	Chr19:38517565	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA074292	rs_544339193	6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA059617	rs_748844266	7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)	SNV Germline	Chr1:154176221	Pathogenic/Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA342585072	rs_1571418855	2 SubmittersRCV000808390 RCV005860154
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405634883	rs_1440262870	6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA066333	rs_201094741	6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	SNV Germline	Chr1:229432016	Conflicting classifications of pathogenicity	Actin accumulation myopathy Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA1442804	rs_141030526	3 SubmittersRCV000877200 RCV001099824 RCV001099825 RCV001545990
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	SNV Germline	Chr1:229431823	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy	Criteria Provided Conflicting Classifications	CA1442756	rs_770931836	2 SubmittersRCV001098049 RCV001098050 RCV001098051
NM_000540.3(RYR1):c.668A>G (p.His223Arg)	SNV Germline	Chr19:38446508	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068570	rs_766836202	6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)	SNV Germline	Chr1:229432120	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA345147089	rs_1558081664	3 SubmittersRCV000995477 RCV001869389 RCV004587005
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062775	rs_776252106	6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)	SNV Germline	Chr1:25805219	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA696513	rs_778603129	5 SubmittersRCV001039378 RCV001732020
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA405695616	rs_1305971341	5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)	SNV Germline	Chr19:38466117	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064173	rs_143179371	6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)	SNV Germline	Chr19:38499671	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA069098	rs_144526634	5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	SNV Germline	Chr19:38505340	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA071860	rs_767805554	6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)	SNV Germline	Chr19:38512483	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073657	rs_770942162	4 SubmittersRCV001057839 RCV002482022 RCV004000093
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061315	rs_193922875	6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA054848	rs_374325589	4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)	SNV Germline	Chr19:38519244	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA052265	rs_538500669	6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773
NM_152263.4(TPM3):c.*5640C>T	SNV Germline	Chr1:154162297	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA30762609	rs_564296987	1 SubmittersRCV001097896 RCV001097897
NM_152263.4(TPM3):c.*1077A>C	SNV Germline	Chr1:154166860	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA30765532	rs_557217738	1 SubmittersRCV001098594 RCV001096834
NM_152263.4(TPM3):c.*157C>T	SNV Germline	Chr1:154167780	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA30766147	rs_144482403	1 SubmittersRCV001100497 RCV001100498
NM_152263.4(TPM3):c.249G>A (p.Glu83=)	SNV Germline	Chr1:154176243	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA1125746	rs_149765446	2 SubmittersRCV001098780 RCV001098779 RCV002067751
NM_001100.4(ACTA1):c.*248G>A	SNV Germline	Chr1:229431251	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications	CA38814493	rs_551585351	1 SubmittersRCV001101717 RCV001101718 RCV001101716
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	SNV Germline	Chr1:229431505	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA423754785	rs_1659932688	2 SubmittersRCV001096303 RCV001101722 RCV001101723
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	SNV Germline	Chr1:229432575	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy	Criteria Provided Conflicting Classifications	CA1442882	rs_371410845	2 SubmittersRCV001098139 RCV001098140 RCV001098141
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)	SNV Unknown	Chr14:23425789	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA389048940	rs_1247313340	1 SubmittersRCV001198111
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	SNV Germline	Chr14:23426834	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA389049378	rs_397516127	5 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156 RCV005866844
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)	SNV Germline	Chr19:38499636	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069044	rs_138617219	3 SubmittersRCV001217935 RCV002504268 RCV005402988
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	SNV Germline	Chr19:38455467	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA308123278	rs_927675372	6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062851	rs_565825739	7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)	SNV Germline	Chr19:38463527	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308074291	rs_919322708	5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA053217	rs_373702420	4 SubmittersRCV001370548 RCV002504621 RCV004006823
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)	SNV Germline	Chr12:110911079	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA386696683	rs_2071647433	1 SubmittersRCV001507318
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	SNV Germline	Chr19:38496923	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA068817	rs_761154999	4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Pathogenic	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405683232	rs_1457662393	4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593
NM_000540.3(RYR1):c.947G>A (p.Arg316His)	SNV Germline	Chr19:38448501	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome not specified	Criteria Provided Conflicting Classifications	CA073714	rs_193922761	5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	SNV Germline	Chr1:154191975	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342587508	rs_2148295444	1 SubmittersRCV002014040
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)	SNV Germline	Chr1:154176221	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342585073	rs_1571418855	1 SubmittersRCV002007718
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)	SNV Germline	Chr1:154173178	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA1125711	rs_769493959	2 SubmittersRCV002021590 RCV004587292
NM_152263.4(TPM3):c.118-12G>A	SNV Germline	Chr1:154191323	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2573051308	rs_2526056353	4 SubmittersRCV002285529 RCV005412365 RCV005868551
NM_152263.4(TPM3):c.272G>A (p.Arg91His)	SNV Germline	Chr1:154176220	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342585070	rs_199474713	2 SubmittersRCV003058660 RCV006454326
NM_152263.4(TPM3):c.642+2T>C	SNV Germline	Chr1:154171411	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA1125586	rs_750152844	2 SubmittersRCV002581536 RCV003138517
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)	SNV Germline	Chr1:154172939	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342584155	rs_2526035615	1 SubmittersRCV003142465
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	SNV Germline	Chr1:229432867	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Alpha-actinopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345151024	rs_367543049	3 SubmittersRCV003333931 RCV006548521 RCV006249401
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)	SNV Germline	Chr1:154173127	Pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342584361	rs_2526038482	1 SubmittersRCV003780948
NM_152263.4(TPM3):c.243+1G>A	SNV Germline	Chr1:154191185	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342586906	rs_2526055328	1 SubmittersRCV003792009
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)	SNV Germline	Chr1:154191292	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342587281	rs_2148294647	1 SubmittersRCV003802400

SNV
Germline

Chr1:25800231

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA253168

rs_121908184

8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747

NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)

SNV
Germline

Chr1:25809753

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
Congenital myopathy 4A, autosomal dominant
Eichsfeld type congenital muscular dystrophy
SELENON-related myopathy
Malignant tumor of esophagus
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA223589

rs_121908188

28 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014

NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)

SNV
Germline

Chr1:154167938

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA232703

rs_199474720

4 SubmittersRCV000013260 RCV000128708 RCV000707046

NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:154191925

Pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA232705

rs_80358248

5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204

NM_152263.4(TPM3):c.503G>A (p.Arg168His)

SNV
Germline

Chr1:154172971

Pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy 4A, autosomal dominant
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA144541

rs_121964852

10 SubmittersRCV000013263 RCV000128701 RCV000054415 RCV000537032 RCV001420249

NM_152263.4(TPM3):c.298C>A (p.Leu100Met)

SNV
Germline

Chr1:154176194

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

CA232679

rs_121964853

3 SubmittersRCV000013267 RCV000128697 RCV003151724

NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)

SNV
Germline

Chr1:154172972

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4A, autosomal dominant
TPM3-related core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA232686

rs_121964854

7 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725 RCV004585998

NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)

SNV
Germline

Chr1:154172972

Pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4A, autosomal dominant
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Inborn genetic diseases
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA144544

rs_121964854

15 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000637291 RCV000624745 RCV004585999

NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)

SNV
Germline

Chr19:38457545

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia of anesthesia
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024311

rs_118192172

32 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349

NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024784

rs_28933397

13 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361

NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)

SNV
Germline

Chr19:38443612

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Clubfoot
EMG abnormality
Lower limb amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035

NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)

SNV
Germline

Chr1:229432020

Pathogenic/Likely pathogenic

Actin accumulation myopathy
ACTA1-related myopathies
Condition: not provided
Congenital myopathy with fiber type disproportion
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy
Congenital myopathy 2b, severe infantile, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA258136

rs_121909523

6 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV002504811 RCV003151732

NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)

SNV
Germline

Chr1:229431830

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA341495

rs_121909529

3 SubmittersRCV000019951 RCV001028007 RCV003151734

NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr1:229432134

Likely pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA341497

rs_121909530

4 SubmittersRCV000019952 RCV001851954 RCV003151735

NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)

SNV
Germline

Chr1:229431633

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant
Alpha-actinopathy
Progressive scapulohumeroperoneal distal myopathy

Reviewed By Expert Panel

CA341499

rs_121909531

5 SubmittersRCV000019953 RCV002513127 RCV003151736 RCV005252692 RCV004767013

NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)

SNV
Germline

Chr19:38519399

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
not specified
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA023822

rs_367543058

15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216

NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)

SNV
Germline

Chr19:38451846

Likely pathogenic

Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA023960

rs_118192117

3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338

NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)

SNV
Germline

Chr19:38566953

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Single Submitter

CA024049

rs_143849895

2 SubmittersRCV000034927 RCV004808560

NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)

SNV
Germline

Chr19:38485988

Pathogenic

Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Single Submitter

CA024506

rs_367543055

2 SubmittersRCV000034928 RCV003591635

NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)

SNV
Germline

Chr1:229432867

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344554

rs_367543049

3 SubmittersRCV000034933 RCV000807360 RCV005234924

NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)

SNV
Germline

Chr1:229433100

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Progressive scapulohumeroperoneal distal myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344557

rs_367543048

3 SubmittersRCV000034934 RCV000693406 RCV001198948

NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)

SNV
Germline

Chr1:154176220

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Single Submitter

CA232676

rs_199474713

3 SubmittersRCV000034942 RCV000128696

NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)

SNV
Germline

Chr19:38500898

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Abnormality of the musculature
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)

SNV
Germline

Chr19:38584973

Pathogenic/Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_206926.2(SELENON):c.103G>C (p.Gly35Arg)

SNV
Germline

Chr1:25800333

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA223578

rs_398124359

10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680

NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys)

SNV
Germline

Chr1:25815599

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA223586

rs_200128474

10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681

NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155

NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)

SNV
Germline

Chr19:38457546

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion

Reviewed By Expert Panel

CA024313

rs_193922772

9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002222024 RCV002222025 RCV002222026 RCV002477305

NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)

SNV
Germline

Chr19:38485838

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Acute rhabdomyolysis

Reviewed By Expert Panel

CA024494

rs_193922781

17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238

NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)

SNV
Germline

Chr19:38499670

Pathogenic; drug response

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Central core myopathy

Reviewed By Expert Panel

CA024693

rs_193922803

14 SubmittersRCV000119682 RCV000578408 RCV000803469 RCV000763425 RCV001787994 RCV001787999 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV002281944 RCV004017408 RCV004813060

NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Inborn genetic diseases
Malignant hyperthermia, susceptibility to

Reviewed By Expert Panel

CA024738

rs_193922809

16 SubmittersRCV000119695 RCV001127650 RCV001236218 RCV001788008 RCV001788010 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV002492410 RCV004019662 RCV004556734

NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)

SNV
Germline

Chr19:38499984

Likely pathogenic

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024744

rs_193922810

7 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868

NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Condition: not provided
Multi-minicore disease and atypical periodic paralysis
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease
RYR1-related disorder
Hydrops fetalis
Central core myopathy
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501

NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)

SNV
Germline

ChrX:150659665

Pathogenic/Likely pathogenic

Severe X-linked myotubular myopathy
Condition: not provided
Spastic paraplegia
Centronuclear myopathy
Congenital myopathy with fiber type disproportion
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA271769

rs_587783772

9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237

NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

Myopathy, RYR1-associated
not specified
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771

NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

Congenital myopathy
RYR1-related disorder
Condition: not provided
not specified
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
See cases
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

19 SubmittersRCV000148819 RCV000534955 RCV000520385 RCV000501380 RCV000855482 RCV001198313 RCV003998172 RCV004017422 RCV004797783 RCV004767091 RCV005406848

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

Congenital myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401

NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)

SNV
Germline

Chr14:23424876

Pathogenic/Likely pathogenic

Hypertrophic cardiomyopathy 1
Condition: not provided
Myopathy
Hypertrophic cardiomyopathy
Congenital myopathy with fiber type disproportion
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Myosin storage myopathy
MYH7-related skeletal myopathy
Dilated cardiomyopathy 1S
Myopathy, myosin storage, autosomal recessive
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Myosin storage myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA012656

rs_2754158

21 SubmittersRCV000201448 RCV000225738 RCV000415053 RCV000457606 RCV001198295 RCV001524491 RCV002453490 RCV002505152 RCV003333032 RCV003333030 RCV003333029 RCV003333031 RCV003448270 RCV004771464

NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)

SNV
Germline

Chr14:23426810

Pathogenic/Likely pathogenic

Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA011560

rs_727503263

13 SubmittersRCV000461116 RCV000620591 RCV000770495 RCV000766426 RCV001197245 RCV001258093

NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr1:154172927

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
TPM3-related myopathy

Criteria Provided
Conflicting Classifications

CA235008

rs_727504181

3 SubmittersRCV000154017 RCV002516101 RCV002514966

NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)

SNV
Germline

Chr14:23430634

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy
Cardiomyopathy
Congenital myopathy with fiber type disproportion
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016961

rs_730880923

10 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160 RCV005443032

NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)

SNV
Germline

Chr19:38505910

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024923

rs_144777676

10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358

NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602

NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000540.3(RYR1):c.14304-6C>A

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753

NM_001100.4(ACTA1):c.867C>T (p.Ile289=)

SNV
Germline

Chr1:229431844

Conflicting classifications of pathogenicity

not specified
Familial restrictive cardiomyopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
ACTA1-related disorder

Criteria Provided
Conflicting Classifications

CA208117

rs_140074813

4 SubmittersRCV000194143 RCV001099821 RCV001099822 RCV001099823 RCV003947591

NM_206926.2(SELENON):c.313G>A (p.Ala105Thr)

SNV
Germline

Chr1:25805153

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA207149

rs_201692549

10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881

NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)

SNV
Germline

Chr19:38502946

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
not specified
RYR1-related disorder
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449

NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Exercise-induced myalgia
Myalgia
Elevated circulating creatine kinase concentration
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195

NM_000540.3(RYR1):c.10347+1G>A

SNV
Germline

Chr19:38523116

Pathogenic

Inborn genetic diseases
Condition: not provided
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related myopathy

Reviewed By Expert Panel

CA053108

rs_111436401

11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342

NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)

SNV
Germline

Chr19:38534781

Conflicting classifications of pathogenicity

Malignant hypothermia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA056720

rs_146361173

9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911

NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)

SNV
Germline

Chr1:229432575

Likely pathogenic

Condition: not provided
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Alpha-actinopathy

Reviewed By Expert Panel

CA1442883

rs_371410845

4 SubmittersRCV000261100 RCV001814140 RCV002519066 RCV004813085

NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)

SNV
Germline

Chr1:25809150

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA696660

rs_199564797

9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311

NM_206926.2(SELENON):c.1613C>A (p.Thr538Asn)

SNV
Germline

Chr1:25815660

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder

Criteria Provided
Conflicting Classifications

CA696975

rs_183272965

7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033

NM_152263.4(TPM3):c.*1152C>T

SNV
Germline

Chr1:154166785

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA10607729

rs_535068015

1 SubmittersRCV000265463 RCV000364785

NM_152263.4(TPM3):c.*5594G>T

SNV
Germline

Chr1:154162343

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10607842

rs_550606876

1 SubmittersRCV000263606 RCV000316425

NM_152263.4(TPM3):c.495+7G>C

SNV
Germline

Chr1:154173077

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125707

rs_749792884

2 SubmittersRCV000342262 RCV000390605 RCV002059333

NM_152263.4(TPM3):c.327T>G (p.Thr109=)

SNV
Germline

Chr1:154176165

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125742

rs_764255899

2 SubmittersRCV000301387 RCV000394360 RCV000875762

NM_152263.4(TPM3):c.804C>T (p.Tyr268=)

SNV
Germline

Chr1:154169355

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125508

rs_762511246

2 SubmittersRCV000285057 RCV000377153 RCV002059332

NM_152263.4(TPM3):c.378-13C>T

SNV
Germline

Chr1:154173214

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125717

rs_367548433

2 SubmittersRCV000297760 RCV000336326 RCV002059334

NM_001100.4(ACTA1):c.108C>T (p.Ile36=)

SNV
Germline

Chr1:229433008

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1442937

rs_143948837

2 SubmittersRCV000289010 RCV000325221 RCV000378765

NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948

NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)

SNV
Germline

Chr19:38499718

Pathogenic/Likely pathogenic

Delayed gross motor development
Congenital contracture
Short stature
Proximal amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043555

rs_1057518940

3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254

NM_152263.4(TPM3):c.831C>T (p.His277=)

SNV
Germline

Chr1:154169328

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1125504

rs_781032589

2 SubmittersRCV000415940 RCV001418356

NM_000540.3(RYR1):c.7835+1G>A

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)

SNV
Germline

Chr19:38504269

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
not specified
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA071182

rs_138325444

7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347

NM_000540.3(RYR1):c.11590+1G>T

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)

SNV
Germline

Chr14:23424817

Pathogenic/Likely pathogenic

Hypertrophic cardiomyopathy
Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16609633

rs_1060505018

7 SubmittersRCV000477668 RCV001197233 RCV002466513 RCV004023097

NM_000540.3(RYR1):c.4160+1G>A

SNV
Germline

Chr19:38473772

Conflicting classifications of pathogenicity

Hypotonia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827

NM_152263.4(TPM3):c.43G>C (p.Asp15His)

SNV
Germline

Chr1:154191976

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342587512

rs_1553251644

3 SubmittersRCV000503601 RCV000806717 RCV000727596

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_152263.4(TPM3):c.455C>T (p.Ala152Val)

SNV
Germline

Chr1:154173124

Pathogenic/Likely pathogenic

Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA342584351

rs_1553249076

2 SubmittersRCV000522047 RCV001857960

NM_000540.3(RYR1):c.9472+1G>A

SNV
Germline

Chr19:38512484

Pathogenic

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA073621

rs_776697656

9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833

NM_000540.3(RYR1):c.14129+1G>A

SNV
Germline

Chr19:38573308

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Uterine corpus endometrial carcinoma
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA060836

rs_142929172

8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280

NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)

SNV
Germline

Chr1:154170417

Pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342582852

rs_1553248515

1 SubmittersRCV000524673

NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)

SNV
Germline

Chr1:229431508

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1442703

rs_142311664

2 SubmittersRCV000546819 RCV001096304 RCV001096305

NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448

NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)

SNV
Germline

Chr19:38585967

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489

NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066855

rs_202225176

3 SubmittersRCV000526099 RCV002483516 RCV003133373

NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)

SNV
Germline

Chr19:38496276

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA308104063

rs_745432757

2 SubmittersRCV000558724 RCV002506378

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380

NM_152263.4(TPM3):c.643-3C>T

SNV
Germline

Chr1:154170714

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1125562

rs_529845435

3 SubmittersRCV000606959 RCV001860277 RCV003139912

NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)

SNV
Germline

Chr19:38505851

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA072049

rs_775492883

5 SubmittersRCV000626286 RCV003133414 RCV002529788 RCV004802305

NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)

SNV
Germline

Chr19:38452838

Conflicting classifications of pathogenicity

Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706

NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)

SNV
Germline

Chr19:38517520

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

NM_152263.4(TPM3):c.298C>G (p.Leu100Val)

SNV
Germline

Chr1:154176194

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342585012

rs_121964853

1 SubmittersRCV000637290

NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)

SNV
Germline

Chr19:38517532

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
not specified
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637

NM_000540.3(RYR1):c.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Condition: not provided
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220

NM_000257.4(MYH7):c.5560-2A>C

SNV
Germline

Chr14:23414104

Likely pathogenic

MYH7-related skeletal myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA389034986

rs_1566521710

1 SubmittersRCV000681617 RCV001199131

NM_000540.3(RYR1):c.13104G>A (p.Val4368=)

SNV
Germline

Chr19:38565438

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA507355614

rs_1357186643

2 SubmittersRCV000703165 RCV002499265

NM_000540.3(RYR1):c.14869-5C>G

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA891844342

rs_1199304403

2 SubmittersRCV000695461 RCV002499246

NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)

SNV
Germline

Chr19:38460545

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

NM_206926.2(SELENON):c.1010G>A (p.Gly337Asp)

SNV
Germline

Chr1:25811710

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Conflicting Classifications

CA696769

rs_745886248

7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417

NM_000540.3(RYR1):c.767G>A (p.Arg256His)

SNV
Germline

Chr19:38446735

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069967

rs_772767943

7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860

NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)

SNV
Germline

Chr19:38469026

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
not specified
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064845

rs_201174268

9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839

NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA405654623

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

NM_000540.3(RYR1):c.9001-15C>A

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164

NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863

NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924

NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)

SNV
Germline

Chr1:154176221

Pathogenic/Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA342585072

rs_1571418855

2 SubmittersRCV000808390 RCV005860154

NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)

SNV
Germline

Chr19:38466204

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405634883

rs_1440262870

6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

NM_000540.3(RYR1):c.46-4G>A

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769

NM_001100.4(ACTA1):c.786G>C (p.Thr262=)

SNV
Germline

Chr1:229432016

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1442804

rs_141030526

3 SubmittersRCV000877200 RCV001099824 RCV001099825 RCV001545990

NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)

SNV
Germline

Chr1:229431823

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

CA1442756

rs_770931836

2 SubmittersRCV001098049 RCV001098050 RCV001098051

NM_000540.3(RYR1):c.668A>G (p.His223Arg)

SNV
Germline

Chr19:38446508

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068570

rs_766836202

6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442

NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)

SNV
Germline

Chr1:229432120

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA345147089

rs_1558081664

3 SubmittersRCV000995477 RCV001869389 RCV004587005

NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Condition: not provided
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475

NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr1:25805219

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA696513

rs_778603129

5 SubmittersRCV001039378 RCV001732020

NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620

NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)

SNV
Germline

Chr19:38466117

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791

NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)

SNV
Germline

Chr19:38499671

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684

NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA071860

rs_767805554

6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)

SNV
Germline

Chr19:38512483

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

4 SubmittersRCV001057839 RCV002482022 RCV004000093

NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807

NM_000540.3(RYR1):c.10824+8G>A

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA054848

rs_374325589

4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962

NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)

SNV
Germline

Chr19:38519244

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773

NM_152263.4(TPM3):c.*5640C>T

SNV
Germline

Chr1:154162297

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA30762609

rs_564296987

1 SubmittersRCV001097896 RCV001097897

NM_152263.4(TPM3):c.*1077A>C

SNV
Germline

Chr1:154166860

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA30765532

rs_557217738

1 SubmittersRCV001098594 RCV001096834

NM_152263.4(TPM3):c.*157C>T

SNV
Germline

Chr1:154167780

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA30766147

rs_144482403

1 SubmittersRCV001100497 RCV001100498

NM_152263.4(TPM3):c.249G>A (p.Glu83=)

SNV
Germline

Chr1:154176243

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1125746

rs_149765446

2 SubmittersRCV001098780 RCV001098779 RCV002067751

NM_001100.4(ACTA1):c.*248G>A

SNV
Germline

Chr1:229431251

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

CA38814493

rs_551585351

1 SubmittersRCV001101717 RCV001101718 RCV001101716

NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)

SNV
Germline

Chr1:229431505

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA423754785

rs_1659932688

2 SubmittersRCV001096303 RCV001101722 RCV001101723

NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)

SNV
Germline

Chr1:229432575

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

CA1442882

rs_371410845

2 SubmittersRCV001098139 RCV001098140 RCV001098141

NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)

SNV
Unknown

Chr14:23425789

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA389048940

rs_1247313340

1 SubmittersRCV001198111

NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)

SNV
Germline

Chr14:23426834

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA389049378

rs_397516127

5 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156 RCV005866844

NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069044

rs_138617219

3 SubmittersRCV001217935 RCV002504268 RCV005402988

NM_000540.3(RYR1):c.1593C>T (p.Gly531=)

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710

NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144

NM_000540.3(RYR1):c.2682G>T (p.Pro894=)

SNV
Germline

Chr19:38463527

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308074291

rs_919322708

5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034

NM_000540.3(RYR1):c.10347C>T (p.His3449=)

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

4 SubmittersRCV001370548 RCV002504621 RCV004006823

NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)

SNV
Germline

Chr12:110911079

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA386696683

rs_2071647433

1 SubmittersRCV001507318

NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA068817

rs_761154999

4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346

NM_000540.3(RYR1):c.14130-2A>G

SNV
Germline

Chr19:38575917

Pathogenic

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593

NM_000540.3(RYR1):c.947G>A (p.Arg316His)

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
not specified

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051

NM_152263.4(TPM3):c.44A>T (p.Asp15Val)

SNV
Germline

Chr1:154191975

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342587508

rs_2148295444

1 SubmittersRCV002014040

NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)

SNV
Germline

Chr1:154176221

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342585073

rs_1571418855

1 SubmittersRCV002007718

NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)

SNV
Germline

Chr1:154173178

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA1125711

rs_769493959

2 SubmittersRCV002021590 RCV004587292

NM_152263.4(TPM3):c.118-12G>A

SNV
Germline

Chr1:154191323

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051308

rs_2526056353

4 SubmittersRCV002285529 RCV005412365 RCV005868551

NM_152263.4(TPM3):c.272G>A (p.Arg91His)

SNV
Germline

Chr1:154176220

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342585070

rs_199474713

2 SubmittersRCV003058660 RCV006454326

NM_152263.4(TPM3):c.642+2T>C

SNV
Germline

Chr1:154171411

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1125586

rs_750152844

2 SubmittersRCV002581536 RCV003138517

NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

SNV
Germline

Chr1:154172939

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342584155

rs_2526035615

1 SubmittersRCV003142465

NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)

SNV
Germline

Chr1:229432867

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Alpha-actinopathy
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345151024

rs_367543049

3 SubmittersRCV003333931 RCV006548521 RCV006249401

NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)

SNV
Germline

Chr1:154173127

Pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342584361

rs_2526038482

1 SubmittersRCV003780948

NM_152263.4(TPM3):c.243+1G>A

SNV
Germline

Chr1:154191185

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342586906

rs_2526055328

1 SubmittersRCV003792009

NM_152263.4(TPM3):c.137C>T (p.Ala46Val)

SNV
Germline

Chr1:154191292

Likely pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

CA342587281

rs_2148294647

1 SubmittersRCV003802400