Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020451.3(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 Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253168	rs_121908184	6 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	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	Criteria Provided Multiple Submitters No Conflicts	CA223589	rs_121908188	26 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	SNV Germline	Chr17:63941508	Pathogenic	Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Condition: not provided 6 conditions 7 conditions Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	CA117834	rs_80338962	10 SubmittersRCV000006256 RCV000006257 RCV000516497 RCV000763018 RCV005016245 RCV005417418
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	SNV Germline	Chr17:63943846	Pathogenic	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Familial hyperkalemic periodic paralysis Condition: not provided SCN4A-related non-dystrophic myotonia 7 conditions Paramyotonia congenita of Von Eulenburg Familial hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myopathy 22A, classic Potassium-aggravated myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117840	rs_80338792	14 SubmittersRCV000006265 RCV000006264 RCV000690377 RCV000479620 RCV002267601 RCV005016246 RCV005428990
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)	SNV Germline	Chr1:154191993	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA232675	rs_80358247	3 SubmittersRCV000013259 RCV000128695 RCV003151723
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 with fiber type disproportion Congenital myopathy 4B, autosomal recessive	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 Condition: not provided Congenital myopathy 4A, autosomal dominant Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Inborn genetic diseases Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA144544	rs_121964854	13 SubmittersRCV000013269 RCV000128700 RCV000054416 RCV000637291 RCV000624745 RCV004585999
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	SNV Germline	Chr9:35685672	Pathogenic/Likely pathogenic	Congenital myopathy 23 Condition: not provided Arthrogryposis, distal, type 1A Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA232643	rs_104894129	8 SubmittersRCV000013278 RCV000128681 RCV000531827 RCV005502742
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	SNV Germline	Chr9:35689265	Pathogenic	Condition: not provided Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Single Submitter	CA232622	rs_137853306	3 SubmittersRCV000128672 RCV000013280 RCV001206319
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)	SNV Germline	Chr9:35684765	Pathogenic	Condition: not provided Congenital myopathy 23	No Assertion Criteria Provided	CA122421	rs_137853307	2 SubmittersRCV000128687 RCV003231101
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder Inborn genetic diseases desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity	Reviewed By Expert Panel	CA024311	rs_118192172	30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393
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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy methoxyflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024784	rs_28933397	12 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV002490361 RCV001787730 RCV001787732 RCV001787726 RCV001787727 RCV001787728 RCV001787729
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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Centronuclear myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 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 King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	11 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)	SNV Germline	Chr19:7125507	Conflicting classifications of pathogenicity	Type 2 diabetes mellitus not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Condition: not provided Monogenic diabetes Rabson-Mendenhall syndrome Bailey-Bloch congenital myopathy Leprechaunism syndrome	Criteria Provided Conflicting Classifications	CA124262	rs_1799816	12 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000515071 RCV000445519 RCV001132184 RCV001258250 RCV001132183
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	SNV Germline	Chr7:143321841	Pathogenic	Batten-Turner congenital myopathy CLCN1-related disorder Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA258012	rs_80356700	14 SubmittersRCV000020113 RCV004532391 RCV000291823 RCV000627758 RCV000019084 RCV003317041
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	SNV Germline	Chr7:143339290	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Single Submitter	CA258018	rs_80356694	3 SubmittersRCV000020101 RCV001237767 RCV000019089
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	SNV Germline	Chr7:143342001	Pathogenic/Likely pathogenic	Myotonia levior Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA127249	rs_80356696	7 SubmittersRCV000019090 RCV000020103 RCV000498537 RCV000685420 RCV001253100
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	SNV Germline	Chr7:143330788	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form CLCN1-related disorder Myotonia Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA258020	rs_80356690	7 SubmittersRCV000020117 RCV001196224 RCV004528125 RCV000626584 RCV000711241 RCV000690053 RCV000019091
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	SNV Germline	Chr7:143330868	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Condition: not provided 6 conditions Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA258024	rs_80356702	14 SubmittersRCV000019095 RCV000019094 RCV000020121 RCV000516960 RCV000626585 RCV000763169
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	SNV Germline	Chr7:143351678	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Myopathy EMG: myopathic abnormalities Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Tip-toe gait Cerebral palsy Abnormality of the musculature CLCN1-related disorder Myotonia levior Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA258028	rs_55960271	35 SubmittersRCV000019099 RCV000019098 RCV000020107 RCV000626582 RCV000292791 RCV000627759 RCV001564017 RCV001794458 RCV001813999 RCV004737160 RCV005428993
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	SNV Germline	Chr7:143320744	Likely pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Single Submitter	CA258030	rs_80356699	3 SubmittersRCV000020109 RCV001049292 RCV000019100
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	SNV Germline	Chr1:201053538	Pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA004054	rs_28930068	15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003992159 RCV003450645
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	SNV Germline	Chr1:201077915	Pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA004021	rs_80338777	15 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)	SNV Germline	Chr1:229432723	Pathogenic/Likely pathogenic	Actin accumulation myopathy ACTA1-related myopathies Congenital myopathy 2b, severe infantile, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA258130	rs_121909519	3 SubmittersRCV000019941 RCV001731311 RCV003151730
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	SNV Germline	Chr1:229433067	Pathogenic/Likely pathogenic	Congenital myopathy 2b, severe infantile, autosomal recessive Congenital myopathy 2c, severe infantile, autosomal dominant Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy Condition: not provided Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA128029	rs_121909521	4 SubmittersRCV005016281 RCV002510771 RCV003151731
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)	SNV Germline	Chr1:229432393	Pathogenic	Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA258134	rs_121909522	1 SubmittersRCV000019944 RCV003227607
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 Actin accumulation myopathy Progressive scapulohumeroperoneal distal 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.1075A>C (p.Ile359Leu)	SNV Germline	Chr1:229431558	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA258138	rs_121909524	1 SubmittersRCV003151733
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	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Conflicting Classifications	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 Progressive scapulohumeroperoneal distal myopathy Alpha-actinopathy Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Reviewed By Expert Panel	CA341499	rs_121909531	5 SubmittersRCV000019953 RCV004767013 RCV005252692 RCV002513127 RCV003151736
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	SNV Germline	Chr2:174754242	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 1A Lethal multiple pterygium syndrome Condition: not provided Congenital myopathy Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel Congenital myasthenic syndrome 1A Myasthenic syndrome, congenital, 1B, fast-channel Congenital myasthenic syndrome 1A	Criteria Provided Multiple Submitters No Conflicts	CA258183	rs_137852801	7 SubmittersRCV000020047 RCV000556947 RCV001564390 RCV004586016 RCV005409604 RCV005409605
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	SNV Germline	Chr7:143341938	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341539	rs_80356704	9 SubmittersRCV000020102 RCV002267607 RCV000638249 RCV000711222
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	SNV Germline	Chr7:143330838	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form CLCN1-related disorder Congenital myotonia, autosomal recessive form Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA341557	rs_80356701	12 SubmittersRCV000020118 RCV002243656 RCV004541011 RCV004562217 RCV000483128 RCV000477848
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	SNV Germline	Chr7:143330847	Pathogenic	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA341559	rs_80356691	7 SubmittersRCV000020119 RCV000516849 RCV001823101 RCV002514123 RCV004700259
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)	SNV Germline	Chr5:127440825	Pathogenic/Likely pathogenic	Congenital myopathy 10b, mild variant MEGF10-related myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129572	rs_387907072	4 SubmittersRCV000023956 RCV000023955 RCV003156219
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)	SNV Germline	Chr5:127410447	Pathogenic	Congenital myopathy 10b, mild variant MEGF10-related myopathy	Criteria Provided Single Submitter	CA129574	rs_387907073	2 SubmittersRCV000023957 RCV001385515
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	SNV Germline	Chr9:37784953	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1B 7 conditions Condition: not provided Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA342800	rs_387907196	24 SubmittersRCV000024369 RCV000853550 RCV001092265 RCV004586024
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Germline	Chr19:38451846	Likely pathogenic	Central core myopathy Congenital myopathy with fiber type disproportion Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023960	rs_118192117	3 SubmittersRCV000056214 RCV000034926 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_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)	SNV Germline	Chr19:38517651	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA025011	rs_367543057	3 SubmittersRCV000034932 RCV005406770 RCV001363318
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)	SNV Germline	Chr1:229432867	Pathogenic	Actin accumulation myopathy Congenital myopathy with fiber type disproportion Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344554	rs_367543049	3 SubmittersRCV000807360 RCV000034933 RCV005234924
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	SNV Germline	Chr1:229433100	Pathogenic/Likely pathogenic	Actin accumulation myopathy Congenital myopathy with fiber type disproportion Progressive scapulohumeroperoneal distal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344557	rs_367543048	3 SubmittersRCV000693406 RCV000034934 RCV001198948
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)	SNV Germline	Chr2:178733826	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Tip-toe gait TTN-related disorder Hereditary skeletal muscle disorder Congenital myopathy	Criteria Provided Conflicting Classifications	CA211174	rs_72648930	18 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001131551 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV002225075 RCV004534852 RCV005625234 RCV005625233
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)	SNV Germline	Chr1:229431727	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA263209	rs_398122936	1 SubmittersRCV003151741
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided Congenital myopathy with fiber type disproportion RYR1-related disorder Abnormality of the musculature Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Pathogenic/Likely pathogenic	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	SNV Germline	Chr12:57244322	Pathogenic/Likely pathogenic	Bailey-Bloch congenital myopathy Condition: not provided STAC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA145329	rs_140291094	20 SubmittersRCV000074400 RCV001093315 RCV004757959
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)	SNV Germline	Chr9:131511458	Conflicting classifications of pathogenicity	Condition: not provided POMT1-related congenital myopathy	Criteria Provided Conflicting Classifications	CA222987	rs_377372480	2 SubmittersRCV000081475 RCV004586544
NM_020451.3(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_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	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_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)	SNV Germline	Chr16:724193	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA230972	rs_148595483	3 SubmittersRCV000116606 RCV001082148
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	SNV Germline	Chr19:38543551	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Central core myopathy See cases not specified RYR1-related myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA023938	rs_147136339	23 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV002251988 RCV003398723 RCV003993810 RCV005016406
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Reviewed By Expert Panel	CA024118	rs_193922868	12 SubmittersRCV000119503 RCV001380753 RCV003231155 RCV002498548
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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity	Reviewed By Expert Panel	CA024313	rs_193922772	9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305 RCV002222024 RCV002222025 RCV002222026
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Inborn genetic diseases RYR1-related disorder Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA024494	rs_193922781	16 SubmittersRCV000119633 RCV000148807 RCV001449805 RCV001265978 RCV001057054 RCV002505055
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity RYR1-related disorder enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity Central core myopathy Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024693	rs_193922803	14 SubmittersRCV000119682 RCV000763425 RCV000578408 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV000803469 RCV001787994 RCV001787999 RCV002281944 RCV001787993 RCV004813060 RCV004017408
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy 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 Inborn genetic diseases Malignant hyperthermia, susceptibility to RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity desflurane response - Toxicity halothane response - Toxicity	Reviewed By Expert Panel	CA024738	rs_193922809	17 SubmittersRCV000119695 RCV001127649 RCV001788011 RCV001788012 RCV001788013 RCV001127651 RCV002492410 RCV001127650 RCV004019662 RCV004556734 RCV001236218 RCV001788008 RCV001788010 RCV001788007 RCV001788009
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Reviewed By Expert Panel	CA024744	rs_193922810	7 SubmittersRCV000119697 RCV001216014 RCV001802868 RCV001197604
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	SNV Germline	Chr1:201060816	Likely pathogenic	Condition: not provided Malignant hyperthermia of anesthesia Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA004036	rs_80338782	4 SubmittersRCV000144372 RCV004017419 RCV005008047
NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)	SNV Germline	Chr10:17594245	Pathogenic	Congenital myopathy 11	No Assertion Criteria Provided	CA249437	rs_606231257	1 SubmittersRCV002269927
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Multi-minicore disease and atypical periodic paralysis Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy RYR1-related disorder Hydrops fetalis Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	26 SubmittersRCV000148787 RCV000147436 RCV000171129 RCV000178453 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 Inborn genetic diseases Centronuclear myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA271769	rs_587783772	9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV005372237 RCV004586569 RCV004586568
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 Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546 RCV005252771
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr19:38466176	Conflicting classifications of pathogenicity	Congenital myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA024378	rs_150993059	8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV002265625 RCV001565509
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy not specified RYR1-related disorder Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion See cases Neuromuscular disease Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	18 SubmittersRCV000148819 RCV000501380 RCV000534955 RCV000520385 RCV000855482 RCV001198313 RCV004797783 RCV004017422 RCV003998172 RCV004767091 RCV005406848
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided Inborn genetic diseases Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023934	rs_377178986	11 SubmittersRCV000148788 RCV000704053 RCV000990206 RCV000721251 RCV001266922 RCV002478416 RCV001795258 RCV004786401
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)	SNV Germline	Chr2:178622684	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Congenital myopathy Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA185817	rs_727505350	7 SubmittersRCV000156906 RCV000620569 RCV000725890 RCV000705371 RCV005625342 RCV004764904
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 Dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive Cardiovascular phenotype Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 6 conditions Myosin storage myopathy MYH7-related skeletal myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy	Criteria Provided Multiple Submitters No Conflicts	CA012656	rs_2754158	20 SubmittersRCV000201448 RCV000225738 RCV000415053 RCV000457606 RCV001198295 RCV001524491 RCV003333029 RCV003333031 RCV002453490 RCV003448270 RCV002505152 RCV003333032 RCV003333030 RCV004771464
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	SNV Germline	Chr14:23426810	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hypertrophic cardiomyopathy Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy 1 Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA011560	rs_727503263	11 SubmittersRCV000620591 RCV000461116 RCV000766426 RCV000770495 RCV001258093 RCV001197245
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_000540.3(RYR1):c.12283-7C>T	SNV Germline	Chr19:38561106	Conflicting classifications of pathogenicity	not specified Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy	Criteria Provided Conflicting Classifications	CA023977	rs_143861818	11 SubmittersRCV000153872 RCV000321998 RCV000271306 RCV000325376 RCV000384640 RCV000513533 RCV001081922 RCV005621890
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	9 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160 RCV005443032
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)	SNV Germline	Chr2:178664032	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder Congenital myopathy 6 conditions	Criteria Provided Conflicting Classifications	CA200105	rs_200513156	15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV004539593 RCV005625363 RCV005396515
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	SNV Germline	Chr19:38505910	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 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	CA024923	rs_144777676	8 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 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 multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	5 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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion 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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	5 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	SNV Germline	Chr1:201091983	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Condition: not provided Long QT syndrome Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA004075	rs_141204958	12 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365 RCV005008109 RCV005361087 RCV005402868
NM_000540.3(RYR1):c.14304-6C>A	SNV Germline	Chr19:38578138	Conflicting classifications of pathogenicity	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 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	3 SubmittersRCV000182600 RCV000702407 RCV002485210
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)	SNV Germline	Chr2:178722367	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Congenital myopathy	Criteria Provided Conflicting Classifications	CA312007	rs_759713604	7 SubmittersRCV000304195 RCV000329111 RCV000365247 RCV000185409 RCV000458691 RCV001798659 RCV000275340 RCV000363577 RCV003422080 RCV005625396
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)	SNV Germline	Chr7:143332755	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA347374	rs_774843953	8 SubmittersRCV000193137 RCV000518351 RCV003313944 RCV000701519
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	SNV Germline	Chr7:143341995	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347407	rs_762754992	5 SubmittersRCV000194136 RCV000793565 RCV001823126 RCV003326370
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_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SNV Germline	Chr1:25805153	Conflicting classifications of pathogenicity	not specified Condition: not provided SEPN1-related disorder Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA207149	rs_201692549	9 SubmittersRCV000193575 RCV000725931 RCV001097302 RCV000543024 RCV002492881
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified 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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr21:43060481	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Connective tissue disorder not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Congenital myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA324371	rs_117687681	22 SubmittersRCV000231839 RCV000514877 RCV002277461 RCV001526851 RCV002310759 RCV002517167 RCV003401060 RCV005621912 RCV005404373
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	SNV Germline	Chr19:38502946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	10 SubmittersRCV000209968 RCV000678749 RCV000800203 RCV000765449 RCV001356636 RCV005625449
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Elevated circulating creatine kinase concentration Myalgia Exercise-induced myalgia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	6 SubmittersRCV000210015 RCV000547789 RCV000521020 RCV000626705 RCV000764195
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)	SNV Germline	Chr1:229432426	Likely pathogenic	Congenital muscular dystrophy with rigid spine Congenital myopathy 2b, severe infantile, autosomal recessive	Criteria Provided Single Submitter	CA10575964	rs_768144106	2 SubmittersRCV000230128 RCV003221864
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)	SNV Germline	Chr9:35689205	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA10575977	rs_878854363	2 SubmittersRCV000234310 RCV001853365
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Pathogenic/Likely pathogenic	Inborn genetic diseases 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA053108	rs_111436401	9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320 RCV005025343
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	SNV Germline	Chr17:63941922	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Familial hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA10584065	rs_879253789	4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	SNV Germline	Chr7:143330817	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537173	rs_118066140	12 SubmittersRCV000239241 RCV000513813 RCV000660618 RCV000404319 RCV001086594
NM_000083.3(CLCN1):c.2284+5C>T	SNV Germline	Chr7:143346256	Conflicting classifications of pathogenicity	not specified Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537608	rs_74824159	10 SubmittersRCV000238941 RCV000407412 RCV000545584 RCV001705317 RCV001199130
NM_000083.3(CLCN1):c.774+1G>A	SNV Germline	Chr7:143323387	Pathogenic	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA4537075	rs_776073429	8 SubmittersRCV000254934 RCV000305146 RCV000543122 RCV005250044
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	SNV Germline	Chr1:229432575	Likely pathogenic	Condition: not provided Actin accumulation myopathy Congenital myopathy with fiber type disproportion Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy Alpha-actinopathy	Reviewed By Expert Panel	CA1442883	rs_371410845	4 SubmittersRCV000261100 RCV002519066 RCV001814140 RCV004813085
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SNV Germline	Chr1:25809150	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Multiple Submitters No Conflicts	CA696660	rs_199564797	9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311
NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	SNV Germline	Chr1:25811533	Pathogenic	Condition: not provided Congenital myopathy 4A, autosomal dominant	Criteria Provided Single Submitter	CA10602788	rs_886041584	2 SubmittersRCV000364817 RCV004767208
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	SNV Germline	Chr7:143339304	Pathogenic	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4537377	rs_146457619	13 SubmittersRCV000342021 RCV000638257 RCV000778823 RCV001589311 RCV004737396
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	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_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)	SNV Germline	Chr21:46132074	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Congenital myopathy	Criteria Provided Conflicting Classifications	CA10072935	rs_373813975	5 SubmittersRCV000285371 RCV000377482 RCV001087885 RCV000400296 RCV005621930
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)	SNV Germline	Chr7:143332864	Conflicting classifications of pathogenicity	Condition: not provided Batten-Turner congenital myopathy not specified Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537336	rs_201919331	7 SubmittersRCV000513242 RCV001161643 RCV004701391 RCV001084293
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_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)	SNV Germline	Chr1:201043321	Conflicting classifications of pathogenicity	Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083665	rs_146696748	5 SubmittersRCV003458395 RCV000362920 RCV003454873 RCV000815102 RCV003454872 RCV005401415
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	SNV Germline	Chr1:201043447	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083619	rs_200848930	6 SubmittersRCV000287248 RCV000379008 RCV000692277 RCV005401416 RCV000711148 RCV005003622
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)	SNV Germline	Chr1:201062018	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA10608734	rs_146497999	6 SubmittersRCV000290207 RCV004021408 RCV003454890 RCV003458406 RCV002221220 RCV005222879
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	SNV Germline	Chr1:201075498	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078677	rs_760246258	7 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV005008267 RCV003298356 RCV005402900
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)	SNV Germline	Chr1:201075558	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078649	rs_147888089	4 SubmittersRCV000265931 RCV001295829 RCV005003624 RCV005008268
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)	SNV Germline	Chr1:201077002	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078549	rs_377459546	4 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	SNV Germline	Chr1:201089269	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA084030	rs_138205421	6 SubmittersRCV000296457 RCV000811152 RCV003454912 RCV005008270 RCV003454913 RCV003458419
NM_000069.3(CACNA1S):c.398+3G>A	SNV Germline	Chr1:201093879	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083015	rs_764710968	7 SubmittersRCV000307110 RCV000397402 RCV000651213 RCV000835462 RCV003517183 RCV005008271
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)	SNV Germline	Chr1:201062040	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided CACNA1S-related disorder not specified Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079447	rs_140453525	7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003910073 RCV003401281 RCV005402899 RCV005008266
NM_000069.3(CACNA1S):c.1949-7C>T	SNV Germline	Chr1:201074627	Conflicting classifications of pathogenicity	CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Condition: not provided	Criteria Provided Conflicting Classifications	CA078725	rs_368564115	5 SubmittersRCV003940101 RCV000545576 RCV000400031 RCV003445866 RCV003445867 RCV003445868 RCV004725150
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	SNV Germline	Chr1:229433008	Conflicting classifications of pathogenicity	Actin accumulation myopathy Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications	CA1442937	rs_143948837	2 SubmittersRCV000289010 RCV000378765 RCV000325221
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)	SNV Germline	Chr7:143332457	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537279	rs_202119213	6 SubmittersRCV000297363 RCV000481219 RCV001078695
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)	SNV Germline	Chr7:143346197	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided not specified Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Dystonia, early-onset, and/or spastic paraplegia	Criteria Provided Conflicting Classifications	CA4537594	rs_149316679	6 SubmittersRCV000279484 RCV001712348 RCV000518175 RCV000638263 RCV005625564
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	SNV Germline	Chr7:143350604	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Dystonia, early-onset, and/or spastic paraplegia	Criteria Provided Conflicting Classifications	CA4537729	rs_201861334	8 SubmittersRCV000368010 RCV000711230 RCV000700433 RCV005625565
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)	SNV Germline	Chr7:143350609	Conflicting classifications of pathogenicity	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537730	rs_775384507	3 SubmittersRCV000991821 RCV000402752 RCV002519502
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	SNV Germline	Chr7:143320675	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided Batten-Turner congenital myopathy Tip-toe gait Congenital myotonia, autosomal recessive form not specified	Criteria Provided Conflicting Classifications	CA4536912	rs_201509501	9 SubmittersRCV000792000 RCV000998933 RCV001161535 RCV003319210 RCV003994119 RCV004800587
NM_000083.3(CLCN1):c.756G>A (p.Val252=)	SNV Germline	Chr7:143323368	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA10625396	rs_886062034	2 SubmittersRCV000391740 RCV002524524
NM_000083.3(CLCN1):c.1251+11G>T	SNV Germline	Chr7:143332514	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537288	rs_780748786	2 SubmittersRCV000356921 RCV003766064
NM_003289.4(TPM2):c.564-9C>T	SNV Germline	Chr9:35684816	Conflicting classifications of pathogenicity	Congenital myopathy 23 not specified Condition: not provided Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA5047244	rs_763429317	4 SubmittersRCV000278603 RCV000607973 RCV001288083 RCV000875847
NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	SNV Germline	Chr7:143316368	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA10628372	rs_886062032	2 SubmittersRCV000266956 RCV003766063
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)	SNV Germline	Chr7:143320676	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4536913	rs_756353660	5 SubmittersRCV000263405 RCV001571296 RCV000536073 RCV004022040
NM_000083.3(CLCN1):c.*29C>A	SNV Germline	Chr7:143351994	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA4537831	rs_202172391	2 SubmittersRCV000366724 RCV003144241
NM_003289.4(TPM2):c.-10C>A	SNV Germline	Chr9:35689827	Conflicting classifications of pathogenicity	Arthrogryposis, distal, type 1A Congenital myopathy 23 not specified TPM2-related disorder	Criteria Provided Conflicting Classifications	CA5047475	rs_372751531	3 SubmittersRCV000336042 RCV000394289 RCV000503446 RCV004544715
NM_003289.4(TPM2):c.*25A>C	SNV Germline	Chr9:35683134	Conflicting classifications of pathogenicity	Arthrogryposis, distal, type 1A Congenital myopathy 23	Criteria Provided Conflicting Classifications	CA5047140	rs_781513152	1 SubmittersRCV000304035 RCV000399833
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)	SNV Germline	Chr1:201085016	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078019	rs_148770452	3 SubmittersRCV000414075 RCV000996097 RCV000699469 RCV005004145
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SNV Unknown	Chr17:63964587	Conflicting classifications of pathogenicity	Muscle weakness Myotonia Batten-Turner congenital myopathy Pain Muscle weakness EMG: myotonic discharges Limb pain Distal sensory impairment Familial hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA16043537	rs_121908552	1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000690328 RCV000487533 RCV001128278 RCV001128280 RCV001198358 RCV001128279 RCV003993948
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	SNV Germline	Chr19:38499718	Pathogenic	Short stature Proximal amyotrophy Delayed gross motor development Congenital contracture RYR1-related disorder Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043555	rs_1057518940	3 SubmittersRCV000414976 RCV001233334 RCV001198534 RCV003133254
NM_152263.4(TPM3):c.831C>T (p.His277=)	SNV Germline	Chr1:154169328	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA1125504	rs_781032589	2 SubmittersRCV001418356 RCV000415940
NM_000069.3(CACNA1S):c.3414+3A>T	SNV Germline	Chr1:201060655	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16603474	rs_892742196	5 SubmittersRCV000529294 RCV002264936 RCV003996060 RCV003897864 RCV005010322
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	SNV Germline	Chr1:201047211	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083451	rs_765581827	5 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003456074 RCV003458436 RCV004711096 RCV003456073
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)	SNV Germline	Chr1:201053226	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082876	rs_774300377	4 SubmittersRCV000420857 RCV005004158 RCV001063783 RCV004000504
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)	SNV Germline	Chr1:201066962	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079088	rs_369192794	6 SubmittersRCV000425186 RCV001861555 RCV005004156 RCV004000425 RCV004965454
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)	SNV Germline	Chr1:201041533	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083723	rs_201310235	4 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157
NM_001378030.1(CCDC78):c.267+3G>A	SNV Germline	Chr16:725791	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA7789689	rs_749827376	2 SubmittersRCV000433929 RCV001352422
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided 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 Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	SNV Germline	Chr1:201041534	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083722	rs_550371466	9 SubmittersRCV000454946 RCV000782224 RCV001096066 RCV000814679 RCV005239013 RCV005010330 RCV004751528 RCV005355786
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_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	SNV Germline	Chr1:201047546	Conflicting classifications of pathogenicity	Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA16617038	rs_970352258	6 SubmittersRCV000481252 RCV003449233 RCV003449232 RCV001851232 RCV002481522 RCV003449231 RCV003458442
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)	SNV Germline	Chr1:201073607	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA078805	rs_147112322	7 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV005010393 RCV001724025 RCV004751562
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser)	SNV Germline	Chr1:229432333	Pathogenic/Likely pathogenic	Condition: not provided Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA16617084	rs_1064794287	3 SubmittersRCV000485242 RCV002525830 RCV005001067
NM_001164508.2(NEB):c.2415+1G>A	SNV Germline	Chr2:151688291	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA16617246	rs_1057524581	4 SubmittersRCV000487268 RCV001382399 RCV002265777 RCV005621951
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)	SNV Germline	Chr12:40922306	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA6516571	rs_142755965	2 SubmittersRCV001044442 RCV000481172
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)	SNV Germline	Chr12:41025270	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA6517196	rs_138121813	2 SubmittersRCV001205215 RCV000487172
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)	SNV Germline	Chr1:201078005	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078266	rs_150590855	8 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV005010400 RCV003168987 RCV005401467
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	SNV Germline	Chr12:57244222	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Bailey-Bloch congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA6646959	rs_371720347	6 SubmittersRCV000487670 RCV001267514 RCV000677630
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)	SNV Germline	Chr16:722982	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789106	rs_369081589	3 SubmittersRCV000487557 RCV001851289 RCV002525992
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Conflicting classifications of pathogenicity	Hypotonia Condition: not provided King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405643333	rs_113460156	5 SubmittersRCV000490681 RCV004722827 RCV002489200 RCV003757181 RCV004806371
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	SNV Germline	Chr1:201074521	Conflicting classifications of pathogenicity	Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078757	rs_141031133	6 SubmittersRCV005004190 RCV001262359 RCV000494517 RCV004003478 RCV000688405
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)	SNV Germline	Chr12:40959179	Conflicting classifications of pathogenicity	Compton-North congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA6516926	rs_768838928	2 SubmittersRCV000871125 RCV000503918
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)	SNV Germline	Chr16:724716	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789446	rs_752077571	3 SubmittersRCV000540447 RCV000504010 RCV004965507
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	Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Multiminicore myopathy Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA065302	rs_146407179	6 SubmittersRCV000509349 RCV004003564 RCV001223356 RCV001703183
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	SNV Germline	Chr1:201089385	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Condition: not provided CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA083997	rs_35534614	8 SubmittersRCV001081811 RCV003517213 RCV005004204 RCV000514356 RCV003935341
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)	SNV Germline	Chr1:201060785	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Intellectual disability	Criteria Provided Conflicting Classifications	CA079631	rs_142102094	6 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)	SNV Germline	Chr1:201078006	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078265	rs_532351874	6 SubmittersRCV003487271 RCV004023496 RCV005004207 RCV000518320 RCV001241845
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)	SNV Germline	Chr7:143346201	Conflicting classifications of pathogenicity	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537596	rs_144612641	5 SubmittersRCV000516763 RCV001165266 RCV000552273
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)	SNV Germline	Chr16:724186	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores not specified	Criteria Provided Conflicting Classifications	CA7789312	rs_780197880	2 SubmittersRCV000650516 RCV000516842
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)	SNV Germline	Chr16:725464	Conflicting classifications of pathogenicity	Condition: not provided CCDC78-related disorder Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7789632	rs_145274257	5 SubmittersRCV000518150 RCV003915450 RCV000559318 RCV004601192 RCV005000073
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)	SNV Germline	Chr1:154173124	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA342584351	rs_1553249076	2 SubmittersRCV000522047 RCV001857960
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)	SNV Germline	Chr1:201069581	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078972	rs_760674518	4 SubmittersRCV000519296 RCV001225189 RCV005010484
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)	SNV Germline	Chr1:201083299	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078097	rs_370861322	4 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003449493 RCV003458449 RCV005010481
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	SNV Germline	Chr7:143351862	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537805	rs_150796358	7 SubmittersRCV000711231 RCV000798907 RCV001161762 RCV003883154
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Pathogenic	Condition: not provided Inborn genetic diseases RYR1-related disorder Congenital myopathy with fiber type disproportion 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	CA073621	rs_776697656	7 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622 RCV004737600
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA060836	rs_142929172	4 SubmittersRCV000519097 RCV001851492 RCV002497013
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_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)	SNV Germline	Chr1:201039903	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083898	rs_141556780	3 SubmittersRCV000535113 RCV004586790 RCV005010524
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	SNV Germline	Chr1:201040302	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA083800	rs_200434921	7 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223 RCV005010523 RCV005431759
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)	SNV Germline	Chr1:229431900	Conflicting classifications of pathogenicity	Actin accumulation myopathy Condition: not provided Congenital myopathy 4A, autosomal dominant Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy	Criteria Provided Conflicting Classifications	CA345146297	rs_1553255361	3 SubmittersRCV000542841 RCV003139768 RCV005409671
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)	SNV Germline	Chr1:201085495	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA077944	rs_763360081	3 SubmittersRCV000529687 RCV001584331 RCV005004239
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	SNV Germline	Chr1:201058433	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA082633	rs_200366112	3 SubmittersRCV000546815 RCV003487272 RCV005004242
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)	SNV Germline	Chr1:201075591	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078626	rs_149195094	2 SubmittersRCV000532209 RCV005010522
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_003289.4(TPM2):c.374+9G>C	SNV Germline	Chr9:35685638	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A TPM2-related disorder	Criteria Provided Conflicting Classifications	CA5047388	rs_200730708	3 SubmittersRCV001168543 RCV000556694 RCV004541649
NM_001843.4(CNTN1):c.1683+1G>A	SNV Germline	Chr12:40944171	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384425188	rs_1555185778	1 SubmittersRCV000539454
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)	SNV Germline	Chr12:41027941	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384587984	rs_1555201269	1 SubmittersRCV000526899
NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly)	SNV Germline	Chr12:40939386	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA6516829	rs_141706688	2 SubmittersRCV000526090 RCV004592588
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln)	SNV Germline	Chr15:33722793	Conflicting classifications of pathogenicity	Epileptic encephalopathy Condition: not provided Congenital myopathy 20	Criteria Provided Conflicting Classifications	CA7459649	rs_199648816	3 SubmittersRCV000526774 RCV002060306 RCV005409669
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)	SNV Germline	Chr16:722948	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores CCDC78-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7789100	rs_760280521	4 SubmittersRCV000546211 RCV003945300 RCV004024230 RCV004704089
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln)	SNV Germline	Chr16:723009	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789117	rs_771507948	2 SubmittersRCV000538424 RCV004965567
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)	SNV Germline	Chr16:725480	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789636	rs_201924732	2 SubmittersRCV000544640 RCV004024231
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)	SNV Germline	Chr16:725483	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789638	rs_745392382	3 SubmittersRCV000534408 RCV001755887 RCV004601206
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter)	SNV Germline	Chr16:725257	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA7789584	rs_200825023	2 SubmittersRCV000548973 RCV005357605
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)	SNV Germline	Chr16:725261	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications	CA7789585	rs_370998388	2 SubmittersRCV000537626 RCV003156257
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SNV Germline	Chr17:63947061	Pathogenic/Likely pathogenic	Familial hyperkalemic periodic paralysis Congenital myopathy 22A, classic Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8709288	rs_780703403	3 SubmittersRCV000557400 RCV003227493 RCV004820047
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	SNV Germline	Chr19:38483429	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	5 SubmittersRCV000541033 RCV001546453 RCV004024433 RCV002476208
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 Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405692312	rs_1432807966	7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV003999490 RCV002497202
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	6 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108 RCV004802183
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	5 SubmittersRCV002497201 RCV000827374 RCV001078943 RCV003999489
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome 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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	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 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	Criteria Provided Conflicting Classifications	CA066047	rs_151325948	9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Condition: not provided Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 POMT1-related congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA5293180	rs_757903559	8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785
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_000069.3(CACNA1S):c.1290G>A (p.Lys430=)	SNV Germline	Chr1:201083265	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA422691707	rs_1241905770	4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)	SNV Germline	Chr1:201043333	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083650	rs_145340252	4 SubmittersRCV000613062 RCV001313278 RCV003456104 RCV003456105 RCV003456106 RCV003458476 RCV004601221
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)	SNV Germline	Chr2:178674347	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Congenital myopathy	Criteria Provided Conflicting Classifications	CA1998012	rs_752903377	5 SubmittersRCV000615121 RCV000732481 RCV000769040 RCV005625703
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	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758
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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	SNV Germline	Chr1:154176194	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342585012	rs_121964853	1 SubmittersRCV000637290
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)	SNV Germline	Chr1:201043468	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA1321791	rs_756066219	3 SubmittersRCV000651212 RCV002530539 RCV005004304
NM_000069.3(CACNA1S):c.5049-2A>G	SNV Germline	Chr1:201041591	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided not specified Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083706	rs_148989517	5 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	SNV Germline	Chr1:201044407	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083555	rs_183195890	8 SubmittersRCV000651269 RCV002493045 RCV003451580 RCV003458497 RCV003451581 RCV004792337 RCV003451582 RCV003953183 RCV004025825
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	SNV Germline	Chr1:201047600	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083380	rs_149036408	6 SubmittersRCV001515531 RCV000711146 RCV003451564 RCV003451566 RCV003458489 RCV003451565 RCV005010632
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	SNV Germline	Chr1:201048683	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 not specified	Criteria Provided Conflicting Classifications	CA083251	rs_377474103	6 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV005004306 RCV003451556 RCV003456115 RCV003458485 RCV005000459
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)	SNV Germline	Chr1:201077941	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078399	rs_200066766	4 SubmittersRCV000651227 RCV005004307 RCV004004092 RCV005623352
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)	SNV Germline	Chr12:41029162	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384588280	rs_1555201480	1 SubmittersRCV000645985
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)	SNV Germline	Chr16:725102	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789543	rs_560987339	2 SubmittersRCV000650511 RCV002531962
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	6 SubmittersRCV000655593 RCV001125554 RCV001125555 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 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	6 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)	SNV Germline	Chr1:201078033	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA078252	rs_138364213	7 SubmittersRCV000658423 RCV001096478 RCV002536327 RCV001855376 RCV004004191 RCV005010641 RCV003392506
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA082842	rs_1568507354	3 SubmittersRCV000678325 RCV003591771 RCV002493120
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405674053	rs_1456276440	5 SubmittersRCV000680086 RCV001784304 RCV001861877 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_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)	SNV Germline	Chr1:201060666	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079656	rs_145039828	4 SubmittersRCV000686554 RCV002547103 RCV004004250 RCV005004363
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)	SNV Germline	Chr1:201061984	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA079482	rs_149658326	5 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV004783841
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)	SNV Germline	Chr5:127340630	Conflicting classifications of pathogenicity	MEGF10-related myopathy Congenital myopathy 10b, mild variant	Criteria Provided Conflicting Classifications	CA127484629	rs_200163743	2 SubmittersRCV000699779 RCV003989586
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	SNV Germline	Chr12:57244604	Pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter	CA385411906	rs_1202215410	1 SubmittersRCV000700459
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala)	SNV Germline	Chr16:724763	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores not specified	Criteria Provided Conflicting Classifications	CA7789458	rs_749951287	3 SubmittersRCV000685832 RCV005436010
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)	SNV Germline	Chr16:726345	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789781	rs_181469519	4 SubmittersRCV000698790 RCV001288562 RCV004965689
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)	SNV Germline	Chr16:722942	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications	CA7789095	rs_142180051	2 SubmittersRCV000694693 RCV004569324
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)	SNV Germline	Chr19:38565438	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion	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 Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	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 Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome	Criteria Provided Conflicting Classifications	CA063399	rs_146754847	6 SubmittersRCV000693319 RCV000721454 RCV003999596 RCV002477569
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 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	Criteria Provided Conflicting Classifications	CA066054	rs_747718728	7 SubmittersRCV000693287 RCV002531464 RCV003999595 RCV002477568 RCV003130003
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)	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_000083.3(CLCN1):c.412G>A (p.Val138Ile)	SNV Germline	Chr7:143320774	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy CLCN1-related disorder	Criteria Provided Conflicting Classifications	CA4536928	rs_762344462	5 SubmittersRCV000711232 RCV001405014 RCV001163064 RCV004544955
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	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 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073057	rs_372702492	4 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 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA074292	rs_544339193	5 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA059617	rs_748844266	7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924 RCV004702371
NM_003289.4(TPM2):c.269G>A (p.Arg90His)	SNV Germline	Chr9:35685752	Likely pathogenic	Congenital myopathy 23	Criteria Provided Single Submitter	CA373368501	rs_1563929454	1 SubmittersRCV000754748
NM_000069.3(CACNA1S):c.4113+1G>A	SNV Germline	Chr1:201050983	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344149425	rs_1558056376	5 SubmittersRCV001378977 RCV000782244 RCV003141766 RCV005012304 RCV003446433
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	SNV Germline	Chr1:201053459	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082845	rs_201627041	6 SubmittersRCV000782249 RCV005004416 RCV001377927 RCV003453617 RCV003453618
NM_000069.3(CACNA1S):c.2491-1G>T	SNV Germline	Chr1:201069197	Likely pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Single Submitter	CA344106187	rs_1558067283	2 SubmittersRCV000782245 RCV005004415
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	SNV Germline	Chr1:201070363	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078912	rs_770073633	5 SubmittersRCV001869163 RCV000782246 RCV002493430 RCV003456143 RCV003456144 RCV003458516 RCV003453616
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)	SNV Germline	Chr1:154176221	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342585072	rs_1571418855	1 SubmittersRCV000808390
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)	SNV Germline	Chr1:201041533	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083724	rs_201310235	6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV005004433 RCV004001641
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)	SNV Germline	Chr1:201043342	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Condition: not provided Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083643	rs_141618437	4 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)	SNV Germline	Chr1:201044339	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083571	rs_751048080	3 SubmittersRCV000807837 RCV003353041 RCV005004439
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	SNV Germline	Chr1:201044394	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083561	rs_202120583	3 SubmittersRCV000797715 RCV005012324 RCV003517268
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)	SNV Germline	Chr1:201047144	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083476	rs_757433005	3 SubmittersRCV000794541 RCV000994222 RCV005012319
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)	SNV Germline	Chr1:201050460	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083135	rs_371849585	5 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)	SNV Germline	Chr1:201050464	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083133	rs_756438139	5 SubmittersRCV000822773 RCV001508030 RCV003517272 RCV005012378
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)	SNV Germline	Chr1:201062034	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079453	rs_747618077	4 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)	SNV Germline	Chr1:201066951	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079119	rs_201205904	5 SubmittersRCV000800242 RCV003489884 RCV003517269 RCV005004432
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)	SNV Germline	Chr1:201070336	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078922	rs_771865391	6 SubmittersRCV000803519 RCV001585731 RCV003453674 RCV003453673 RCV003458533 RCV003908099 RCV003453675 RCV004702433 RCV004601284
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)	SNV Germline	Chr1:201085002	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078030	rs_112236248	3 SubmittersRCV000807536 RCV003517271 RCV005004438
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)	SNV Germline	Chr1:229432727	Pathogenic	Actin accumulation myopathy Congenital myopathy Alpha-actinopathy	Reviewed By Expert Panel	CA345150112	rs_1571893814	4 SubmittersRCV000810437 RCV004586937 RCV004994034
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	SNV Germline	Chr7:143323374	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA4537072	rs_772027125	3 SubmittersRCV000822037 RCV001836901
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)	SNV Germline	Chr7:143330880	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA4537184	rs_780150093	3 SubmittersRCV000800361 RCV001836890 RCV005438035
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)	SNV Germline	Chr7:143342467	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications	CA4537504	rs_749762818	2 SubmittersRCV000794383 RCV001163173
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val)	SNV Germline	Chr16:724409	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789371	rs_371760552	2 SubmittersRCV000806322 RCV005306163
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp)	SNV Germline	Chr16:725815	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789699	rs_201503907	2 SubmittersRCV000813173 RCV004601288
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405634883	rs_1440262870	5 SubmittersRCV000811818 RCV003141824 RCV002495127 RCV004001735
NM_145064.3(STAC3):c.997-1G>T	SNV Germline	Chr12:57243911	Pathogenic	Bailey-Bloch congenital myopathy	No Assertion Criteria Provided	CA237754931	rs_779483367	2 SubmittersRCV000851531
NM_000257.4(MYH7):c.5655+5G>C	SNV Germline	Chr14:23414002	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Congenital myopathy Hypertrophic cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA915948813	rs_1595070689	2 SubmittersRCV000855671 RCV002538879
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	Conflicting classifications of pathogenicity	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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066333	rs_201094741	4 SubmittersRCV000867181 RCV002487901 RCV004002997
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	SNV Germline	Chr1:229432016	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA1442804	rs_141030526	3 SubmittersRCV000877200 RCV001099825 RCV001099824 RCV001545990
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	SNV Germline	Chr1:201065853	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA422686681	rs_759934490	6 SubmittersRCV000887743 RCV002501438 RCV003454932 RCV003413713 RCV003454930 RCV003454931 RCV003458569
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)	SNV Germline	Chr1:201083241	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078127	rs_146400205	3 SubmittersRCV000926262 RCV005004466 RCV004003214
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_001378030.1(CCDC78):c.755G>A (p.Trp252Ter)	SNV Germline	Chr16:724691	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA7789440	rs_142133229	2 SubmittersRCV000914903 RCV005367625
NM_000083.3(CLCN1):c.705C>T (p.Phe235=)	SNV Germline	Chr7:143323317	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537056	rs_760323048	3 SubmittersRCV001165162 RCV001433251 RCV003320775
NM_000069.3(CACNA1S):c.3255+10C>T	SNV Germline	Chr1:201061257	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA915941962	rs_1572035084	2 SubmittersRCV001484810 RCV005012404
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)	SNV Unknown	Chr1:154191976	Likely pathogenic	Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342587513	rs_1553251644	1 SubmittersRCV000986418
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)	SNV Unknown	Chr1:154192012	Likely pathogenic	Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342587599	rs_1571456678	1 SubmittersRCV000986419
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)	SNV Germline	Chr1:201075539	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078661	rs_144590408	5 SubmittersRCV001035245 RCV004004424 RCV005532810 RCV005004476
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr1:201077907	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078427	rs_751671175	5 SubmittersRCV001101909 RCV005012426 RCV001248214 RCV003458582 RCV003455023 RCV003455024
NM_000540.3(RYR1):c.668A>G (p.His223Arg)	SNV Germline	Chr19:38446508	Conflicting classifications of pathogenicity	Condition: not provided 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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068570	rs_766836202	5 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	RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA062775	rs_776252106	6 SubmittersRCV001862742 RCV002479200 RCV001004922 RCV004004475 RCV002305557
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)	SNV Germline	Chr15:33603200	Conflicting classifications of pathogenicity	Flexion contracture Congenital myopathy 20	No Assertion Criteria Provided	CA391562871	rs_1314283337	2 SubmittersRCV001007853 RCV003160165
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)	SNV Germline	Chr1:201047167	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083466	rs_774256022	3 SubmittersRCV001038054 RCV004004718 RCV005004495
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	SNV Germline	Chr1:201077916	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA078419	rs_80338778	7 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781 RCV004761906
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)	SNV Germline	Chr1:201089374	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083998	rs_186538122	3 SubmittersRCV001071065 RCV003455303 RCV002489712 RCV003455301 RCV003455302 RCV003458616
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)	SNV Germline	Chr1:201089401	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083990	rs_555596737	3 SubmittersRCV001071805 RCV005012532 RCV004000208
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	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_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)	SNV Germline	Chr12:40943701	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6516865	rs_201639044	2 SubmittersRCV001042684 RCV003353121
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)	SNV Germline	Chr15:33311056	Conflicting classifications of pathogenicity	Epileptic encephalopathy not specified Congenital myopathy 20	Criteria Provided Conflicting Classifications	CA7457630	rs_375998723	3 SubmittersRCV001063110 RCV004030481 RCV003492216
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)	SNV Germline	Chr16:724930	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789495	rs_368147684	2 SubmittersRCV001038657 RCV003363055
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)	SNV Germline	Chr16:725423	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789624	rs_147899031	2 SubmittersRCV001041507 RCV004031254
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)	SNV Germline	Chr17:63945465	Conflicting classifications of pathogenicity	Familial hyperkalemic periodic paralysis Congenital myopathy 22A, classic Condition: not provided Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA400617905	rs_1181083611	4 SubmittersRCV001065707 RCV003227512 RCV004792710 RCV002512136
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Pathogenic/Likely pathogenic	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405695616	rs_1305971341	5 SubmittersRCV001058792 RCV002505620 RCV001784614 RCV004000105
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 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064173	rs_143179371	5 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 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA069098	rs_144526634	4 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 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073657	rs_770942162	3 SubmittersRCV001057839 RCV002482022 RCV004000093
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided 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 Central core myopathy	Criteria Provided Conflicting Classifications	CA061315	rs_193922875	5 SubmittersRCV001040954 RCV003130110 RCV002481884 RCV004819235
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA054848	rs_374325589	4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)	SNV Germline	Chr1:201044446	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083530	rs_372436488	6 SubmittersRCV001092292 RCV001437600 RCV005012549 RCV004000216 RCV004609622
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)	SNV Germline	Chr1:201065906	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079290	rs_146903750	3 SubmittersRCV002995961 RCV005401995 RCV005010857
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)	SNV Germline	Chr19:38519244	Conflicting classifications of pathogenicity	Condition: not provided 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA052265	rs_538500669	5 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV005409773 RCV004000222
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_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)	SNV Germline	Chr1:201069148	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079050	rs_764821044	4 SubmittersRCV001098033 RCV001504451 RCV003455453 RCV003458626 RCV003455454
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	SNV Germline	Chr1:201077110	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078494	rs_373525085	4 SubmittersRCV001099902 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV001856354
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)	SNV Germline	Chr1:201091678	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083935	rs_771569004	4 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198
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 Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications	CA423754785	rs_1659932688	2 SubmittersRCV001096303 RCV001101723 RCV001101722
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	SNV Germline	Chr1:229432575	Conflicting classifications of pathogenicity	Familial restrictive cardiomyopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442882	rs_371410845	2 SubmittersRCV001098140 RCV001098141 RCV001098139
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)	SNV Germline	Chr7:143339294	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications	CA4537374	rs_781587827	2 SubmittersRCV003769774 RCV001161644
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)	SNV Germline	Chr7:143342407	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy not specified Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537497	rs_763850295	4 SubmittersRCV001163171 RCV003323800 RCV001358944 RCV004800707
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)	SNV Germline	Chr7:143345607	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications	CA4537527	rs_200385034	2 SubmittersRCV003769787 RCV001163174
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe)	SNV Germline	Chr7:143351820	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537793	rs_769053787	3 SubmittersRCV001161761 RCV005005057 RCV005225247
NM_000083.3(CLCN1):c.697-9C>A	SNV Germline	Chr7:143323300	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537054	rs_201207110	2 SubmittersRCV001165161 RCV003769798
NM_000083.3(CLCN1):c.1251+14G>A	SNV Germline	Chr7:143332517	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA168214108	rs_1027351084	2 SubmittersRCV001158442 RCV003769757
NM_003289.4(TPM2):c.558C>T (p.Ala186=)	SNV Germline	Chr9:35685274	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA5047332	rs_746177794	2 SubmittersRCV001168541 RCV001168542
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)	SNV Germline	Chr1:229432293	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter	CA345147895	rs_2527437739	1 SubmittersRCV003228209
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	Likely pathogenic	Congenital myopathy with fiber type disproportion Cardiovascular phenotype Hypertrophic cardiomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA389049378	rs_397516127	4 SubmittersRCV001196247 RCV002418658 RCV001349517 RCV003106156
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)	SNV Germline	Chr1:201061398	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079556	rs_562504992	4 SubmittersRCV001222445 RCV005012632 RCV004010745 RCV004601406
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)	SNV Germline	Chr12:109814571	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Conflicting Classifications	CA6780589	rs_777647151	3 SubmittersRCV001587231 RCV005622077 RCV001214255
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)	SNV Germline	Chr16:723117	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789144	rs_376513788	2 SubmittersRCV001224264 RCV004032500
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)	SNV Germline	Chr19:38499636	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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069044	rs_138617219	3 SubmittersRCV001217935 RCV002504268 RCV005402988
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)	SNV Germline	Chr1:201070357	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078915	rs_777247285	2 SubmittersRCV001202456 RCV005005069
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)	SNV Germline	Chr16:725865	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789709	rs_145112523	3 SubmittersRCV001208077 RCV001354253 RCV002561668
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)	SNV Germline	Chr12:40936894	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6516778	rs_201534221	2 SubmittersRCV001228987 RCV002563155
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)	SNV Germline	Chr1:201077991	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078278	rs_140246559	5 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	SNV Germline	Chr1:201069596	Conflicting classifications of pathogenicity	skeletal contractures Muscular atrophy Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA344108070	rs_1157720606	6 SubmittersRCV001254711 RCV003145495 RCV003449815 RCV003152617 RCV003456486 RCV003449816
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	SNV Germline	Chr9:35683232	Pathogenic/Likely pathogenic	Congenital myopathy 23 Arthrogryposis, distal, type 1A Condition: not provided TPM2-related myopathy Congenital myopathy 23	Criteria Provided Multiple Submitters No Conflicts	CA373363229	rs_1824676022	7 SubmittersRCV001254895 RCV001573796 RCV003389253 RCV004800758
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)	SNV Germline	Chr1:201066989	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079080	rs_200334886	2 SubmittersRCV001307461 RCV005005154
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)	SNV Germline	Chr1:201078032	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078255	rs_553739117	3 SubmittersRCV001297932 RCV002285472 RCV005012736
NM_000069.3(CACNA1S):c.258+6A>G	SNV Germline	Chr1:201110158	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079098	rs_376899610	4 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446705 RCV003446706 RCV005005174
NM_001378030.1(CCDC78):c.1134-19C>T	SNV Germline	Chr16:723180	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA723497369	rs_1320283995	2 SubmittersRCV001335566
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	SNV Germline	Chr19:38455467	Conflicting classifications of pathogenicity	Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308123278	rs_927675372	4 SubmittersRCV001334520 RCV002476551 RCV001865812 RCV004005143
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062851	rs_565825739	7 SubmittersRCV001334521 RCV001702096 RCV003591856 RCV002499657 RCV004005144
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	SNV Germline	Chr1:201066897	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA079154	rs_553593355	3 SubmittersRCV001343372 RCV003449967 RCV005005190 RCV003449965 RCV003449966 RCV003458673
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val)	SNV Germline	Chr1:201075588	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078628	rs_776996468	3 SubmittersRCV001347797 RCV004808022 RCV005005858
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)	SNV Germline	Chr1:201049091	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083203	rs_372383822	3 SubmittersRCV001372444 RCV002548661 RCV005005894
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)	SNV Germline	Chr1:201072764	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078873	rs_752513328	5 SubmittersRCV001372783 RCV003169919 RCV003517329 RCV005005896
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)	SNV Germline	Chr1:201112255	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084021	rs_577022740	3 SubmittersRCV001367207 RCV004006807 RCV005005214
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Central core myopathy	Criteria Provided Conflicting Classifications	CA053217	rs_373702420	3 SubmittersRCV001370548 RCV004006823 RCV002504621
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	SNV Germline	Chr17:63971725	Pathogenic	Familial hyperkalemic periodic paralysis Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter	CA292972679	rs_933258893	2 SubmittersRCV001387955 RCV003227973
NM_000069.3(CACNA1S):c.4242-10C>G	SNV Germline	Chr1:201049109	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083175	rs_574154912	4 SubmittersRCV001411221 RCV002493969 RCV003446745 RCV003446747 RCV003446746 RCV003446748
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln)	SNV Germline	Chr16:723003	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789113	rs_141141442	3 SubmittersRCV001432701 RCV004706140 RCV004968167
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_000083.3(CLCN1):c.1393G>T (p.Val465Phe)	SNV Germline	Chr7:143332865	Likely pathogenic	Batten-Turner congenital myopathy	Criteria Provided Single Submitter	CA369644393	rs_139158852	1 SubmittersRCV001837017
NM_213674.1(TPM2):c.773-2A>C	SNV Unknown	Chr9:35682165	Likely pathogenic	Congenital myopathy 23	Criteria Provided Single Submitter	CA373360161	rs_2131843731	1 SubmittersRCV001730076
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)	SNV Germline	Chr1:201049077	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344146480	rs_1224786667	5 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV005006037 RCV004009035
NM_145064.3(STAC3):c.432+1G>A	SNV Germline	Chr12:57248705	Likely pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter	CA6647152	rs_780801708	1 SubmittersRCV001824231
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)	SNV Germline	Chr1:201048587	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083346	rs_780785403	3 SubmittersRCV002047777 RCV005008399 RCV005308678
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)	SNV Germline	Chr1:201065918	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079286	rs_138708497	3 SubmittersRCV001877178 RCV002551094 RCV005005323
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	SNV Germline	Chr19:38496923	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA068817	rs_761154999	4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)	SNV Germline	Chr1:201053508	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA082794	rs_775009783	5 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 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 Conflicting Classifications	CA405683232	rs_1457662393	4 SubmittersRCV001941795 RCV003325593 RCV004010985 RCV002497871
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)	SNV Germline	Chr1:201076928	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078581	rs_377461013	3 SubmittersRCV002029875 RCV005006093 RCV005241469
NM_000540.3(RYR1):c.947G>A (p.Arg316His)	SNV Germline	Chr19:38448501	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA073714	rs_193922761	5 SubmittersRCV001962291 RCV004009225 RCV005253914 RCV002490033 RCV005409051
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser)	SNV Germline	Chr1:201110183	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078980	rs_752667224	3 SubmittersRCV001903409 RCV004010831 RCV005002651
NM_032578.4(MYPN):c.1317+1G>A	SNV Germline	Chr10:68150112	Likely pathogenic	Dilated cardiomyopathy 1KK Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA5522509	rs_766502564	2 SubmittersRCV002023592 RCV004774613
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	SNV Germline	Chr1:201040302	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083801	rs_200434921	3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)	SNV Germline	Chr16:724754	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications	CA7789455	rs_147504073	2 SubmittersRCV001893529 RCV003326593
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)	SNV Germline	Chr1:229432992	Pathogenic	Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant Alpha-actinopathy	Reviewed By Expert Panel	CA345151235	rs_2102736554	3 SubmittersRCV002000054 RCV003228037 RCV004813198
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr)	SNV Germline	Chr1:201093996	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079319	rs_550479246	3 SubmittersRCV001957912 RCV005432862 RCV005006273
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	SNV Germline	Chr1:154191975	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342587508	rs_2148295444	1 SubmittersRCV002014040
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)	SNV Germline	Chr1:201089451	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083969	rs_767790285	4 SubmittersRCV002001260 RCV004011066 RCV005002755 RCV005535221
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser)	SNV Germline	Chr16:723933	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores not specified	Criteria Provided Conflicting Classifications	CA7789271	rs_754906673	2 SubmittersRCV002051003 RCV005437379
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg)	SNV Germline	Chr1:201054513	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082687	rs_776908038	3 SubmittersRCV001944023 RCV004010935 RCV005006257
NM_000069.3(CACNA1S):c.3053+19C>G	SNV Germline	Chr1:201061925	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079503	rs_372276351	3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)	SNV Germline	Chr16:724382	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA276519826	rs_770130604	2 SubmittersRCV001896225 RCV004041456
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_001843.4(CNTN1):c.771A>G (p.Gln257=)	SNV Germline	Chr12:40933528	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA479274061	rs_2136919555	2 SubmittersRCV001961140 RCV004694053
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)	SNV Germline	Chr1:154173178	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive 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	Criteria Provided Multiple Submitters No Conflicts	CA2573051308	rs_2526056353	3 SubmittersRCV002285529 RCV005412365
NM_000069.3(CACNA1S):c.1619+16G>A	SNV Germline	Chr1:201077863	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078446	rs_148454228	2 SubmittersRCV002073533 RCV005002794
NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln)	SNV Germline	Chr12:40933720	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6516725	rs_201607834	2 SubmittersRCV002108630 RCV005542722
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)	SNV Germline	Chr16:726340	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789780	rs_769964986	2 SubmittersRCV002108665 RCV004046471
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)	SNV Germline	Chr1:201043446	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083621	rs_576536458	5 SubmittersRCV003149015 RCV005002793 RCV002176965 RCV004011197
NM_000069.3(CACNA1S):c.1948+11G>A	SNV Germline	Chr1:201075484	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078683	rs_199852936	3 SubmittersRCV002122531 RCV004711821 RCV005008462
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)	SNV Germline	Chr10:17603585	Likely pathogenic	Congenital myopathy 11	Criteria Provided Single Submitter	CA376196412	rs_2493868037	2 SubmittersRCV002271331
NM_014241.4(HACD1):c.785-1G>T	SNV Germline	Chr10:17590447	Pathogenic	Congenital myopathy 11	No Assertion Criteria Provided	CA376192472	rs_2493841471	1 SubmittersRCV002271332
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)	SNV Germline	Chr1:201077027	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078529	rs_773440873	5 SubmittersRCV002288338 RCV003101662 RCV003325600 RCV005008524
NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)	SNV Germline	Chr20:45824594	Pathogenic	Congenital myopathy 15	No Assertion Criteria Provided	CA409189138	rs_2515818511	1 SubmittersRCV002472359
NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)	SNV Germline	Chr20:45824369	Pathogenic	Congenital myopathy 15	No Assertion Criteria Provided	CA409188436	rs_1804548	1 SubmittersRCV002472360
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	Criteria Provided Single Submitter	CA342585070	rs_199474713	1 SubmittersRCV003058660
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)	SNV Germline	Chr1:201060811	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079627	rs_34515088	3 SubmittersRCV003068704 RCV005010945 RCV004808407
NM_000069.3(CACNA1S):c.258+2T>C	SNV Germline	Chr1:201110162	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344155586	rs_1663041820	2 SubmittersRCV003092933 RCV005002953
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_001378030.1(CCDC78):c.1311C>G (p.His437Gln)	SNV Germline	Chr16:722780	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789056	rs_775569629	2 SubmittersRCV002603632 RCV004614374
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)	SNV Germline	Chr1:201066909	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079149	rs_573597311	3 SubmittersRCV002647291 RCV005002970 RCV004009491
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)	SNV Germline	Chr1:201062017	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079469	rs_369941827	3 SubmittersRCV002637771 RCV005011075 RCV005623503
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)	SNV Germline	Chr1:201061410	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1321809	rs_1473668614	5 SubmittersRCV002628591 RCV004009498 RCV003491260 RCV005011071 RCV005323375
NM_001256545.2(MEGF10):c.2857-14T>A	SNV Germline	Chr5:127449085	Conflicting classifications of pathogenicity	MEGF10-related myopathy MEGF10-related myopathy Congenital myopathy 10b, mild variant	Criteria Provided Conflicting Classifications	CA3392055	rs_751955381	2 SubmittersRCV002624659 RCV005034802
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)	SNV Germline	Chr1:201110241	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078582	rs_147382463	3 SubmittersRCV003104780 RCV004725634 RCV005011206
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)	SNV Germline	Chr1:201047564	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA344143120	rs_1263776472	2 SubmittersRCV002575936 RCV005008611
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)	SNV Germline	Chr1:201062033	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079456	rs_778128095	2 SubmittersRCV002572843 RCV005008622
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)	SNV Germline	Chr2:151609977	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348777384	rs_2097887468	4 SubmittersRCV002705678 RCV005254127 RCV004571212 RCV005626683
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)	SNV Germline	Chr1:201089368	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084002	rs_779029870	4 SubmittersRCV002727016 RCV005008721 RCV004007566
NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg)	SNV Germline	Chr12:41014260	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA384586501	rs_1299674857	2 SubmittersRCV002780284 RCV004973602
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)	SNV Germline	Chr16:724958	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA7789504	rs_751262117	3 SubmittersRCV002851976 RCV004966135 RCV005356203
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)	SNV Germline	Chr1:201043479	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344137438	rs_1313984683	3 SubmittersRCV002886044 RCV004066004 RCV005008781
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)	SNV Germline	Chr1:201070315	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078925	rs_566562378	3 SubmittersRCV002895751 RCV004750783 RCV005002898
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr1:201075554	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA078650	rs_150646872	4 SubmittersRCV002882236 RCV005008775 RCV004007657 RCV003409948
NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu)	SNV Germline	Chr12:41016794	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6517101	rs_267603461	2 SubmittersRCV002938144 RCV005542858
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)	SNV Germline	Chr16:725252	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394103103	rs_776425669	2 SubmittersRCV002944004 RCV005535478
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)	SNV Germline	Chr2:151664533	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital myopathy Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910373	rs_374677022	3 SubmittersRCV003274121 RCV005626716 RCV002972553
NM_145064.3(STAC3):c.670+2T>A	SNV Germline	Chr12:57245143	Likely pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter	CA237756514	rs_112253539	1 SubmittersRCV002944314
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)	SNV Germline	Chr12:40922296	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384421921	rs_756907367	1 SubmittersRCV003051748
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)	SNV Germline	Chr1:201072758	Pathogenic	Condition: not provided Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344111792	rs_2464546834	3 SubmittersRCV003120264 RCV003222483
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_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)	SNV Germline	Chr17:63947083	Conflicting classifications of pathogenicity	Condition: not provided Familial hyperkalemic periodic paralysis Congenital myopathy 22A, classic	Criteria Provided Conflicting Classifications	CA400619401	rs_1287863349	3 SubmittersRCV003136482 RCV003505299 RCV004796779
NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys)	SNV Germline	Chr15:50915500	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Congenital myopathy	Criteria Provided Conflicting Classifications	CA7558712	rs_773401224	3 SubmittersRCV003141472 RCV005099364 RCV005622220
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)	SNV Germline	Chr1:229431848	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA345145991	rs_2527436292	1 SubmittersRCV003152501
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)	SNV Germline	Chr1:229432995	Pathogenic	Congenital myopathy 2b, severe infantile, autosomal recessive	No Assertion Criteria Provided	CA345151247	rs_1429699993	1 SubmittersRCV003152503
NM_001100.4(ACTA1):c.809-1G>T	SNV Germline	Chr1:229431903	Pathogenic	Congenital myopathy 2b, severe infantile, autosomal recessive	No Assertion Criteria Provided	CA345146307	rs_1237221320	1 SubmittersRCV003152505
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)	SNV Germline	Chr1:201047615	Pathogenic	Congenital myopathy 18	Criteria Provided Single Submitter	CA344143483	rs_1282907317	2 SubmittersRCV003152509
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)	SNV Germline	Chr1:201072757	Pathogenic	Congenital myopathy 18 Centronuclear myopathy	Criteria Provided Single Submitter	CA344111786	rs_2102135828	2 SubmittersRCV003152512 RCV004587473
NM_001256545.2(MEGF10):c.2981-2A>G	SNV Germline	Chr5:127454564	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided	CA360715258	rs_2479813429	1 SubmittersRCV003152534
NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)	SNV Germline	Chr5:127443064	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided	CA360734359	rs_2479778910	1 SubmittersRCV003152537
NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)	SNV Germline	Chr5:127369942	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided	CA360825091	rs_2479531357	1 SubmittersRCV003152538
NM_001256545.2(MEGF10):c.1426+1G>T	SNV Germline	Chr5:127419241	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided	CA360729484	rs_2479708318	1 SubmittersRCV003152539
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)	SNV Germline	Chr5:127435481	Likely pathogenic	MEGF10-related myopathy Congenital myopathy 10b, mild variant	Criteria Provided Single Submitter	CA126960143	rs_1013163272	2 SubmittersRCV003336823 RCV003152540
NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)	SNV Germline	Chr1:154173134	Pathogenic	Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA342584377	rs_2526038543	1 SubmittersRCV003152550
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)	SNV Germline	Chr1:201112308	Conflicting classifications of pathogenicity	Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA344158674	rs_1420388292	4 SubmittersRCV003217186 RCV004009670 RCV003779707 RCV005003037
NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)	SNV Germline	Chr1:78016089	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided	CA340907351	rs_2524296398	1 SubmittersRCV003223360
NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)	SNV Germline	Chr1:78016018	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided	CA340907196	rs_2524295993	1 SubmittersRCV003223361
NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)	SNV Germline	Chr1:78005184	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided	CA340902123	rs_1660297324	1 SubmittersRCV003223362
NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)	SNV Germline	Chr1:78005291	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided	CA340902375	rs_1353267621	1 SubmittersRCV003223363
NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)	SNV Germline	Chr17:63945454	Pathogenic	Congenital myopathy 22A, classic	No Assertion Criteria Provided	CA400617878	rs_2509290730	1 SubmittersRCV003227546
NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)	SNV Germline	Chr17:63966200	Pathogenic	Congenital myopathy 22B, severe fetal	No Assertion Criteria Provided	CA400636331	rs_2509317969	1 SubmittersRCV003227547
NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)	SNV Germline	Chr17:63941503	Pathogenic	Congenital myopathy 22B, severe fetal	No Assertion Criteria Provided	CA400614993	rs_2509284285	1 SubmittersRCV003227549
NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)	SNV Germline	Chr17:63966221	Pathogenic	Congenital myopathy 22A, classic	No Assertion Criteria Provided	CA400636460	rs_2509318035	1 SubmittersRCV003227550
NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)	SNV Germline	Chr17:63941942	Likely pathogenic	Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter	CA400616194	rs_2509285379	1 SubmittersRCV003315479
NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)	SNV Germline	Chr17:63944787	Likely pathogenic	Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter	CA400617467	rs_2509289236	1 SubmittersRCV003315480
NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)	SNV Germline	Chr1:229432036	Likely pathogenic	Congenital myopathy Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA345146596	rs_1558081624	1 SubmittersRCV003333909 RCV003333908
NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)	SNV Germline	Chr1:229431786	Likely pathogenic	Congenital myopathy	Criteria Provided Single Submitter	CA345145633	rs_2527436164	1 SubmittersRCV003333919
NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)	SNV Germline	Chr1:229431857	Pathogenic/Likely pathogenic	Actin accumulation myopathy Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA345146033	rs_2527436311	2 SubmittersRCV003333921 RCV005254772
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	SNV Germline	Chr1:229432867	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA345151024	rs_367543049	1 SubmittersRCV003333931
NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)	SNV Unknown	Chr1:229432030	Likely pathogenic	Nemaline myopathy Congenital myopathy	Criteria Provided Single Submitter	CA345146567	rs_2527437105	1 SubmittersRCV003333942 RCV003333943
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)	SNV Germline	Chr6:100661955	Likely pathogenic	Congenital myopathy	Criteria Provided Single Submitter	CA144009028	rs_938886650	1 SubmittersRCV003447798
NM_001843.4(CNTN1):c.94+2T>C	SNV Germline	Chr12:40910107	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384421508	rs_2499292213	1 SubmittersRCV003623600
NM_001843.4(CNTN1):c.704-1G>A	SNV Germline	Chr12:40933460	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA6516692	rs_374930846	1 SubmittersRCV003623750
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)	SNV Germline	Chr12:40959141	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384425259	rs_1174434961	1 SubmittersRCV003622204
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_000069.3(CACNA1S):c.2385C>A (p.Ile795=)	SNV Germline	Chr1:201069577	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078974	rs_200730765	2 SubmittersRCV003789562 RCV005003712
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)	SNV Germline	Chr1:201043405	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA35992730	rs_148724065	3 SubmittersRCV003789322 RCV004005977 RCV005003711
NM_000069.3(CACNA1S):c.5049-12C>G	SNV Germline	Chr1:201041601	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA1219569652	rs_1660213551	3 SubmittersRCV003792706 RCV004006007 RCV005003713
NM_152263.4(TPM3):c.243+1G>A	SNV Germline	Chr1:154191185	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	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 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342587281	rs_2148294647	1 SubmittersRCV003802400
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)	SNV Germline	Chr1:201051096	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083031	rs_146158332	4 SubmittersRCV003818041 RCV005013201 RCV004721229 RCV005537694
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)	SNV Germline	Chr12:40933496	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384422988	rs_2499432719	1 SubmittersRCV003859142
NM_001100.4(ACTA1):c.289C>G (p.Arg97Gly)	SNV Germline	Chr1:229432721	Likely pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter		rs_2527439145	1 SubmittersRCV004586459
NM_014241.4(HACD1):c.355C>T (p.Gln119Ter)	SNV Germline	Chr10:17603950	Pathogenic	Congenital myopathy 11	Criteria Provided Single Submitter		rs_2493869193	1 SubmittersRCV004586504
NM_152263.4(TPM3):c.41T>G (p.Leu14Ter)	SNV Germline	Chr1:154191978	Likely pathogenic	Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV004698745
NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)	SNV Germline	Chr2:178633978	Pathogenic	Congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004723661
NM_000334.4(SCN4A):c.3749T>G (p.Met1250Arg)	SNV Germline	Chr17:63945032	Likely pathogenic	Congenital myopathy 22A, classic	Criteria Provided Single Submitter			1 SubmittersRCV004797054
NM_001100.4(ACTA1):c.355G>A (p.Glu119Lys)	SNV Germline	Chr1:229432655	Likely pathogenic	Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy Congenital myopathy 4A, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV004795437
NM_001100.4(ACTA1):c.194G>T (p.Gly65Val)	SNV Germline	Chr1:229432816	Likely pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV004795708
NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)	SNV Germline	Chr1:201050990	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV004805727 RCV005006570
NM_000069.3(CACNA1S):c.3667-3C>T	SNV Germline	Chr1:201053590	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV004805738 RCV005003812
NM_000069.3(CACNA1S):c.4113+2T>C	SNV Germline	Chr1:201050982	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005009365
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)	SNV Germline	Chr1:201051123	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005009403
NM_000069.3(CACNA1S):c.2658-2A>C	SNV Germline	Chr1:201066318	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005005755
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)	SNV Germline	Chr1:201040666	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005005655
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)	SNV Germline	Chr1:201091983	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005012000
NM_001100.4(ACTA1):c.589G>A (p.Glu197Lys)	SNV Germline	Chr1:229432297	Likely pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV005052916
NM_001843.4(CNTN1):c.1362G>A (p.Trp454Ter)	SNV Germline	Chr12:40939468	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005138479
NM_001843.4(CNTN1):c.2512G>T (p.Glu838Ter)	SNV Germline	Chr12:41020429	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005192003
NM_001843.4(CNTN1):c.2711-1G>A	SNV Germline	Chr12:41027856	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005198364
NM_001256545.2(MEGF10):c.1840+1G>A	SNV Germline	Chr5:127433510	Likely pathogenic	Congenital myopathy 10b, mild variant	Criteria Provided Single Submitter			1 SubmittersRCV005233245
NM_001256545.2(MEGF10):c.2233+758C>T	SNV Germline	Chr5:127439325	Likely pathogenic	Congenital myopathy 10b, mild variant	Criteria Provided Single Submitter			1 SubmittersRCV005233246
NM_152263.4(TPM3):c.452A>G (p.Glu151Gly)	SNV Germline	Chr1:154173127	Likely pathogenic	Congenital myopathy 4A, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV005412223
NM_004369.4(COL6A3):c.6816G>A (p.Lys2272=)	SNV Germline	Chr2:237351130	Pathogenic	Congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005622972

SNV
Germline

Chr1:25800231

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253168

rs_121908184

6 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747

NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223589

rs_121908188

26 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737

NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)

SNV
Germline

Chr17:63941508

Pathogenic

Familial hyperkalemic periodic paralysis
Paramyotonia congenita/hyperkalemic periodic paralysis
Condition: not provided
6 conditions
7 conditions
Congenital myopathy 22A, classic

Criteria Provided
Multiple Submitters
No Conflicts

CA117834

rs_80338962

10 SubmittersRCV000006256 RCV000006257 RCV000516497 RCV000763018 RCV005016245 RCV005417418

NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)

SNV
Germline

Chr17:63943846

Pathogenic

Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Familial hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related non-dystrophic myotonia
7 conditions
Paramyotonia congenita of Von Eulenburg
Familial hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myopathy 22A, classic
Potassium-aggravated myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117840

rs_80338792

14 SubmittersRCV000006265 RCV000006264 RCV000690377 RCV000479620 RCV002267601 RCV005016246 RCV005428990

NM_152263.4(TPM3):c.26T>G (p.Met9Arg)

SNV
Germline

Chr1:154191993

Pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

CA232675

rs_80358247

3 SubmittersRCV000013259 RCV000128695 RCV003151723

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 with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144544

rs_121964854

13 SubmittersRCV000013269 RCV000128700 RCV000054416 RCV000637291 RCV000624745 RCV004585999

NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr9:35685672

Pathogenic/Likely pathogenic

Congenital myopathy 23
Condition: not provided
Arthrogryposis, distal, type 1A
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA232643

rs_104894129

8 SubmittersRCV000013278 RCV000128681 RCV000531827 RCV005502742

NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)

SNV
Germline

Chr9:35689265

Pathogenic

Condition: not provided
Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Single Submitter

CA232622

rs_137853306

3 SubmittersRCV000128672 RCV000013280 RCV001206319

NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)

SNV
Germline

Chr9:35684765

Pathogenic

Condition: not provided
Congenital myopathy 23

No Assertion Criteria Provided

CA122421

rs_137853307

2 SubmittersRCV000128687 RCV003231101

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

SNV
Germline

Chr19:38457545

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024311

rs_118192172

30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393

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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024784

rs_28933397

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

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
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Centronuclear myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 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
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

11 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035

NM_000208.4(INSR):c.3034G>A (p.Val1012Met)

SNV
Germline

Chr19:7125507

Conflicting classifications of pathogenicity

Type 2 diabetes mellitus
not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Condition: not provided
Monogenic diabetes
Rabson-Mendenhall syndrome
Bailey-Bloch congenital myopathy
Leprechaunism syndrome

Criteria Provided
Conflicting Classifications

CA124262

rs_1799816

12 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000515071 RCV000445519 RCV001132184 RCV001258250 RCV001132183

NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)

SNV
Germline

Chr7:143321841

Pathogenic

Batten-Turner congenital myopathy
CLCN1-related disorder
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA258012

rs_80356700

14 SubmittersRCV000020113 RCV004532391 RCV000291823 RCV000627758 RCV000019084 RCV003317041

NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)

SNV
Germline

Chr7:143339290

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Single Submitter

CA258018

rs_80356694

3 SubmittersRCV000020101 RCV001237767 RCV000019089

NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)

SNV
Germline

Chr7:143342001

Pathogenic/Likely pathogenic

Myotonia levior
Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA127249

rs_80356696

7 SubmittersRCV000019090 RCV000020103 RCV000498537 RCV000685420 RCV001253100

NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)

SNV
Germline

Chr7:143330788

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
CLCN1-related disorder
Myotonia
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA258020

rs_80356690

7 SubmittersRCV000020117 RCV001196224 RCV004528125 RCV000626584 RCV000711241 RCV000690053 RCV000019091

NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)

SNV
Germline

Chr7:143330868

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Condition: not provided
6 conditions
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA258024

rs_80356702

14 SubmittersRCV000019095 RCV000019094 RCV000020121 RCV000516960 RCV000626585 RCV000763169

NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)

SNV
Germline

Chr7:143351678

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Myopathy
EMG: myopathic abnormalities
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Tip-toe gait
Cerebral palsy
Abnormality of the musculature
CLCN1-related disorder
Myotonia levior
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA258028

rs_55960271

35 SubmittersRCV000019099 RCV000019098 RCV000020107 RCV000626582 RCV000292791 RCV000627759 RCV001564017 RCV001794458 RCV001813999 RCV004737160 RCV005428993

NM_000083.3(CLCN1):c.382A>G (p.Met128Val)

SNV
Germline

Chr7:143320744

Likely pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Single Submitter

CA258030

rs_80356699

3 SubmittersRCV000020109 RCV001049292 RCV000019100

NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)

SNV
Germline

Chr1:201053538

Pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA004054

rs_28930068

15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003992159 RCV003450645

NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)

SNV
Germline

Chr1:201077915

Pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA004021

rs_80338777

15 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389

NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)

SNV
Germline

Chr1:229432723

Pathogenic/Likely pathogenic

Actin accumulation myopathy
ACTA1-related myopathies
Congenital myopathy 2b, severe infantile, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA258130

rs_121909519

3 SubmittersRCV000019941 RCV001731311 RCV003151730

NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)

SNV
Germline

Chr1:229433067

Pathogenic/Likely pathogenic

Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 2c, severe infantile, autosomal dominant
Actin accumulation myopathy
Progressive scapulohumeroperoneal distal myopathy
Condition: not provided
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA128029

rs_121909521

4 SubmittersRCV005016281 RCV002510771 RCV003151731

NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)

SNV
Germline

Chr1:229432393

Pathogenic

Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA258134

rs_121909522

1 SubmittersRCV000019944 RCV003227607

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
Actin accumulation myopathy
Progressive scapulohumeroperoneal distal 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.1075A>C (p.Ile359Leu)

SNV
Germline

Chr1:229431558

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA258138

rs_121909524

1 SubmittersRCV003151733

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Reviewed By Expert Panel

CA341499

rs_121909531

5 SubmittersRCV000019953 RCV004767013 RCV005252692 RCV002513127 RCV003151736

NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)

SNV
Germline

Chr2:174754242

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 1A
Lethal multiple pterygium syndrome
Condition: not provided
Congenital myopathy
Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel
Congenital myasthenic syndrome 1A
Myasthenic syndrome, congenital, 1B, fast-channel
Congenital myasthenic syndrome 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA258183

rs_137852801

7 SubmittersRCV000020047 RCV000556947 RCV001564390 RCV004586016 RCV005409604 RCV005409605

NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)

SNV
Germline

Chr7:143341938

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341539

rs_80356704

9 SubmittersRCV000020102 RCV002267607 RCV000638249 RCV000711222

NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)

SNV
Germline

Chr7:143330838

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
CLCN1-related disorder
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA341557

rs_80356701

12 SubmittersRCV000020118 RCV002243656 RCV004541011 RCV004562217 RCV000483128 RCV000477848

NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)

SNV
Germline

Chr7:143330847

Pathogenic

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA341559

rs_80356691

7 SubmittersRCV000020119 RCV000516849 RCV001823101 RCV002514123 RCV004700259

NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)

SNV
Germline

Chr5:127440825

Pathogenic/Likely pathogenic

Congenital myopathy 10b, mild variant
MEGF10-related myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129572

rs_387907072

4 SubmittersRCV000023956 RCV000023955 RCV003156219

NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)

SNV
Germline

Chr5:127410447

Pathogenic

Congenital myopathy 10b, mild variant
MEGF10-related myopathy

Criteria Provided
Single Submitter

CA129574

rs_387907073

2 SubmittersRCV000023957 RCV001385515

NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)

SNV
Germline

Chr9:37784953

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1B
7 conditions
Condition: not provided
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA342800

rs_387907196

24 SubmittersRCV000024369 RCV000853550 RCV001092265 RCV004586024

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

SNV
Germline

Chr19:38519399

Pathogenic

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

Reviewed By Expert Panel

CA023822

rs_367543058

14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216

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

SNV
Germline

Chr19:38451846

Likely pathogenic

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

Criteria Provided
Single Submitter

CA023960

rs_118192117

3 SubmittersRCV000056214 RCV000034926 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_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)

SNV
Germline

Chr19:38517651

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
not specified
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA025011

rs_367543057

3 SubmittersRCV000034932 RCV005406770 RCV001363318

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

SNV
Germline

Chr1:229432867

Pathogenic

Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344554

rs_367543049

3 SubmittersRCV000807360 RCV000034933 RCV005234924

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

SNV
Germline

Chr1:229433100

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344557

rs_367543048

3 SubmittersRCV000693406 RCV000034934 RCV001198948

NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)

SNV
Germline

Chr2:178733826

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tip-toe gait
TTN-related disorder
Hereditary skeletal muscle disorder
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA211174

rs_72648930

18 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001131551 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV002225075 RCV004534852 RCV005625234 RCV005625233

NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)

SNV
Germline

Chr1:229431727

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA263209

rs_398122936

1 SubmittersRCV003151741

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

SNV
Germline

Chr19:38500898

Likely pathogenic

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

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347

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

SNV
Germline

Chr19:38584973

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742

NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)

SNV
Germline

Chr12:57244322

Pathogenic/Likely pathogenic

Bailey-Bloch congenital myopathy
Condition: not provided
STAC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA145329

rs_140291094

20 SubmittersRCV000074400 RCV001093315 RCV004757959

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

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)

SNV
Germline

Chr9:131511458

Conflicting classifications of pathogenicity

Condition: not provided
POMT1-related congenital myopathy

Criteria Provided
Conflicting Classifications

CA222987

rs_377372480

2 SubmittersRCV000081475 RCV004586544

NM_020451.3(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_020451.3(SELENON):c.1654G>A (p.Glu552Lys)

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_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)

SNV
Germline

Chr16:724193

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA230972

rs_148595483

3 SubmittersRCV000116606 RCV001082148

NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)

SNV
Germline

Chr19:38543551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023938

rs_147136339

23 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV002251988 RCV003398723 RCV003993810 RCV005016406

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

SNV
Germline

Chr19:38577955

Pathogenic

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

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV003231155 RCV002498548

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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity

Reviewed By Expert Panel

CA024313

rs_193922772

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

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

SNV
Germline

Chr19:38485838

Likely pathogenic

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

Reviewed By Expert Panel

CA024494

rs_193922781

16 SubmittersRCV000119633 RCV000148807 RCV001449805 RCV001265978 RCV001057054 RCV002505055

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

SNV
Germline

Chr19:38499670

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024693

rs_193922803

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

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

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024738

rs_193922809

17 SubmittersRCV000119695 RCV001127649 RCV001788011 RCV001788012 RCV001788013 RCV001127651 RCV002492410 RCV001127650 RCV004019662 RCV004556734 RCV001236218 RCV001788008 RCV001788010 RCV001788007 RCV001788009

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

SNV
Germline

Chr19:38499984

Likely pathogenic

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

Reviewed By Expert Panel

CA024744

rs_193922810

7 SubmittersRCV000119697 RCV001216014 RCV001802868 RCV001197604

NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)

SNV
Germline

Chr1:201060816

Likely pathogenic

Condition: not provided
Malignant hyperthermia of anesthesia
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA004036

rs_80338782

4 SubmittersRCV000144372 RCV004017419 RCV005008047

NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)

SNV
Germline

Chr10:17594245

Pathogenic

Congenital myopathy 11

No Assertion Criteria Provided

CA249437

rs_606231257

1 SubmittersRCV002269927

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

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

26 SubmittersRCV000148787 RCV000147436 RCV000171129 RCV000178453 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
Inborn genetic diseases
Centronuclear myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA271769

rs_587783772

9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV005372237 RCV004586569 RCV004586568

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
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546 RCV005252771

NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)

SNV
Germline

Chr19:38466176

Conflicting classifications of pathogenicity

Congenital myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024378

rs_150993059

8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV002265625 RCV001565509

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

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

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

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

11 SubmittersRCV000148788 RCV000704053 RCV000990206 RCV000721251 RCV001266922 RCV002478416 RCV001795258 RCV004786401

NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)

SNV
Germline

Chr2:178622684

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Congenital myopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA185817

rs_727505350

7 SubmittersRCV000156906 RCV000620569 RCV000725890 RCV000705371 RCV005625342 RCV004764904

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
Dilated cardiomyopathy 1S
Myopathy, myosin storage, autosomal recessive
Cardiovascular phenotype
Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy 1
6 conditions
Myosin storage myopathy
MYH7-related skeletal myopathy
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Myosin storage myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA012656

rs_2754158

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

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

SNV
Germline

Chr14:23426810

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011560

rs_727503263

11 SubmittersRCV000620591 RCV000461116 RCV000766426 RCV000770495 RCV001258093 RCV001197245

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_000540.3(RYR1):c.12283-7C>T

SNV
Germline

Chr19:38561106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023977

rs_143861818

11 SubmittersRCV000153872 RCV000321998 RCV000271306 RCV000325376 RCV000384640 RCV000513533 RCV001081922 RCV005621890

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

9 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160 RCV005443032

NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)

SNV
Germline

Chr2:178664032

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder
Congenital myopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA200105

rs_200513156

15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV004539593 RCV005625363 RCV005396515

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

SNV
Germline

Chr19:38505910

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
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

CA024923

rs_144777676

8 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 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 multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

5 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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)

SNV
Germline

Chr1:201091983

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
not specified
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Condition: not provided
Long QT syndrome
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA004075

rs_141204958

12 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365 RCV005008109 RCV005361087 RCV005402868

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

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

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
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

3 SubmittersRCV000182600 RCV000702407 RCV002485210

NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)

SNV
Germline

Chr2:178722367

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA312007

rs_759713604

7 SubmittersRCV000304195 RCV000329111 RCV000365247 RCV000185409 RCV000458691 RCV001798659 RCV000275340 RCV000363577 RCV003422080 RCV005625396

NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)

SNV
Germline

Chr7:143332755

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA347374

rs_774843953

8 SubmittersRCV000193137 RCV000518351 RCV003313944 RCV000701519

NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)

SNV
Germline

Chr7:143341995

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347407

rs_762754992

5 SubmittersRCV000194136 RCV000793565 RCV001823126 RCV003326370

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_020451.3(SELENON):c.415G>A (p.Ala139Thr)

SNV
Germline

Chr1:25805153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207149

rs_201692549

9 SubmittersRCV000193575 RCV000725931 RCV001097302 RCV000543024 RCV002492881

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

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr21:43060481

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Connective tissue disorder
not specified
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Congenital myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA324371

rs_117687681

22 SubmittersRCV000231839 RCV000514877 RCV002277461 RCV001526851 RCV002310759 RCV002517167 RCV003401060 RCV005621912 RCV005404373

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

SNV
Germline

Chr19:38502946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

10 SubmittersRCV000209968 RCV000678749 RCV000800203 RCV000765449 RCV001356636 RCV005625449

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

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

6 SubmittersRCV000210015 RCV000547789 RCV000521020 RCV000626705 RCV000764195

NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)

SNV
Germline

Chr1:229432426

Likely pathogenic

Congenital muscular dystrophy with rigid spine
Congenital myopathy 2b, severe infantile, autosomal recessive

Criteria Provided
Single Submitter

CA10575964

rs_768144106

2 SubmittersRCV000230128 RCV003221864

NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)

SNV
Germline

Chr9:35689205

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA10575977

rs_878854363

2 SubmittersRCV000234310 RCV001853365

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

SNV
Germline

Chr19:38523116

Pathogenic/Likely pathogenic

Inborn genetic diseases
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
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA053108

rs_111436401

9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320 RCV005025343

NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)

SNV
Germline

Chr17:63941922

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Familial hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA10584065

rs_879253789

4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068

NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr7:143330817

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537173

rs_118066140

12 SubmittersRCV000239241 RCV000513813 RCV000660618 RCV000404319 RCV001086594

NM_000083.3(CLCN1):c.2284+5C>T

SNV
Germline

Chr7:143346256

Conflicting classifications of pathogenicity

not specified
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537608

rs_74824159

10 SubmittersRCV000238941 RCV000407412 RCV000545584 RCV001705317 RCV001199130

NM_000083.3(CLCN1):c.774+1G>A

SNV
Germline

Chr7:143323387

Pathogenic

Condition: not provided
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA4537075

rs_776073429

8 SubmittersRCV000254934 RCV000305146 RCV000543122 RCV005250044

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

SNV
Germline

Chr1:229432575

Likely pathogenic

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

Reviewed By Expert Panel

CA1442883

rs_371410845

4 SubmittersRCV000261100 RCV002519066 RCV001814140 RCV004813085

NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)

SNV
Germline

Chr1:25809150

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA696660

rs_199564797

9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311

NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr1:25811533

Pathogenic

Condition: not provided
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Single Submitter

CA10602788

rs_886041584

2 SubmittersRCV000364817 RCV004767208

NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)

SNV
Germline

Chr7:143339304

Pathogenic

Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
CLCN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4537377

rs_146457619

13 SubmittersRCV000342021 RCV000638257 RCV000778823 RCV001589311 RCV004737396

NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)

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_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)

SNV
Germline

Chr21:46132074

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA10072935

rs_373813975

5 SubmittersRCV000285371 RCV000377482 RCV001087885 RCV000400296 RCV005621930

NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)

SNV
Germline

Chr7:143332864

Conflicting classifications of pathogenicity

Condition: not provided
Batten-Turner congenital myopathy
not specified
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537336

rs_201919331

7 SubmittersRCV000513242 RCV001161643 RCV004701391 RCV001084293

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_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)

SNV
Germline

Chr1:201043321

Conflicting classifications of pathogenicity

Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083665

rs_146696748

5 SubmittersRCV003458395 RCV000362920 RCV003454873 RCV000815102 RCV003454872 RCV005401415

NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)

SNV
Germline

Chr1:201043447

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083619

rs_200848930

6 SubmittersRCV000287248 RCV000379008 RCV000692277 RCV005401416 RCV000711148 RCV005003622

NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)

SNV
Germline

Chr1:201062018

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA10608734

rs_146497999

6 SubmittersRCV000290207 RCV004021408 RCV003454890 RCV003458406 RCV002221220 RCV005222879

NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)

SNV
Germline

Chr1:201075498

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078677

rs_760246258

7 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV005008267 RCV003298356 RCV005402900

NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)

SNV
Germline

Chr1:201075558

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078649

rs_147888089

4 SubmittersRCV000265931 RCV001295829 RCV005003624 RCV005008268

NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)

SNV
Germline

Chr1:201077002

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078549

rs_377459546

4 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269

NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)

SNV
Germline

Chr1:201089269

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA084030

rs_138205421

6 SubmittersRCV000296457 RCV000811152 RCV003454912 RCV005008270 RCV003454913 RCV003458419

NM_000069.3(CACNA1S):c.398+3G>A

SNV
Germline

Chr1:201093879

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Hypokalemic periodic paralysis
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083015

rs_764710968

7 SubmittersRCV000307110 RCV000397402 RCV000651213 RCV000835462 RCV003517183 RCV005008271

NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)

SNV
Germline

Chr1:201062040

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
CACNA1S-related disorder
not specified
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079447

rs_140453525

7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003910073 RCV003401281 RCV005402899 RCV005008266

NM_000069.3(CACNA1S):c.1949-7C>T

SNV
Germline

Chr1:201074627

Conflicting classifications of pathogenicity

CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078725

rs_368564115

5 SubmittersRCV003940101 RCV000545576 RCV000400031 RCV003445866 RCV003445867 RCV003445868 RCV004725150

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

SNV
Germline

Chr1:229433008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442937

rs_143948837

2 SubmittersRCV000289010 RCV000378765 RCV000325221

NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)

SNV
Germline

Chr7:143332457

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537279

rs_202119213

6 SubmittersRCV000297363 RCV000481219 RCV001078695

NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)

SNV
Germline

Chr7:143346197

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Dystonia, early-onset, and/or spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4537594

rs_149316679

6 SubmittersRCV000279484 RCV001712348 RCV000518175 RCV000638263 RCV005625564

NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)

SNV
Germline

Chr7:143350604

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Dystonia, early-onset, and/or spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4537729

rs_201861334

8 SubmittersRCV000368010 RCV000711230 RCV000700433 RCV005625565

NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)

SNV
Germline

Chr7:143350609

Conflicting classifications of pathogenicity

Condition: not provided
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537730

rs_775384507

3 SubmittersRCV000991821 RCV000402752 RCV002519502

NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr7:143320675

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Batten-Turner congenital myopathy
Tip-toe gait
Congenital myotonia, autosomal recessive form
not specified

Criteria Provided
Conflicting Classifications

CA4536912

rs_201509501

9 SubmittersRCV000792000 RCV000998933 RCV001161535 RCV003319210 RCV003994119 RCV004800587

NM_000083.3(CLCN1):c.756G>A (p.Val252=)

SNV
Germline

Chr7:143323368

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA10625396

rs_886062034

2 SubmittersRCV000391740 RCV002524524

NM_000083.3(CLCN1):c.1251+11G>T

SNV
Germline

Chr7:143332514

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537288

rs_780748786

2 SubmittersRCV000356921 RCV003766064

NM_003289.4(TPM2):c.564-9C>T

SNV
Germline

Chr9:35684816

Conflicting classifications of pathogenicity

Congenital myopathy 23
not specified
Condition: not provided
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA5047244

rs_763429317

4 SubmittersRCV000278603 RCV000607973 RCV001288083 RCV000875847

NM_000083.3(CLCN1):c.156C>T (p.Pro52=)

SNV
Germline

Chr7:143316368

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA10628372

rs_886062032

2 SubmittersRCV000266956 RCV003766063

NM_000083.3(CLCN1):c.314G>A (p.Arg105His)

SNV
Germline

Chr7:143320676

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4536913

rs_756353660

5 SubmittersRCV000263405 RCV001571296 RCV000536073 RCV004022040

NM_000083.3(CLCN1):c.*29C>A

SNV
Germline

Chr7:143351994

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537831

rs_202172391

2 SubmittersRCV000366724 RCV003144241

NM_003289.4(TPM2):c.-10C>A

SNV
Germline

Chr9:35689827

Conflicting classifications of pathogenicity

Arthrogryposis, distal, type 1A
Congenital myopathy 23
not specified
TPM2-related disorder

Criteria Provided
Conflicting Classifications

CA5047475

rs_372751531

3 SubmittersRCV000336042 RCV000394289 RCV000503446 RCV004544715

NM_003289.4(TPM2):c.*25A>C

SNV
Germline

Chr9:35683134

Conflicting classifications of pathogenicity

Arthrogryposis, distal, type 1A
Congenital myopathy 23

Criteria Provided
Conflicting Classifications

CA5047140

rs_781513152

1 SubmittersRCV000304035 RCV000399833

NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)

SNV
Germline

Chr1:201085016

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078019

rs_148770452

3 SubmittersRCV000414075 RCV000996097 RCV000699469 RCV005004145

NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)

SNV
Unknown

Chr17:63964587

Conflicting classifications of pathogenicity

Muscle weakness
Myotonia
Batten-Turner congenital myopathy
Pain
Muscle weakness
EMG: myotonic discharges
Limb pain
Distal sensory impairment
Familial hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA16043537

rs_121908552

1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414

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

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000690328 RCV000487533 RCV001128278 RCV001128280 RCV001198358 RCV001128279 RCV003993948

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

SNV
Germline

Chr19:38499718

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043555

rs_1057518940

3 SubmittersRCV000414976 RCV001233334 RCV001198534 RCV003133254

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

SNV
Germline

Chr1:154169328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1125504

rs_781032589

2 SubmittersRCV001418356 RCV000415940

NM_000069.3(CACNA1S):c.3414+3A>T

SNV
Germline

Chr1:201060655

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16603474

rs_892742196

5 SubmittersRCV000529294 RCV002264936 RCV003996060 RCV003897864 RCV005010322

NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)

SNV
Germline

Chr1:201047211

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083451

rs_765581827

5 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003456074 RCV003458436 RCV004711096 RCV003456073

NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)

SNV
Germline

Chr1:201053226

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082876

rs_774300377

4 SubmittersRCV000420857 RCV005004158 RCV001063783 RCV004000504

NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)

SNV
Germline

Chr1:201066962

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079088

rs_369192794

6 SubmittersRCV000425186 RCV001861555 RCV005004156 RCV004000425 RCV004965454

NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)

SNV
Germline

Chr1:201041533

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083723

rs_201310235

4 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157

NM_001378030.1(CCDC78):c.267+3G>A

SNV
Germline

Chr16:725791

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA7789689

rs_749827376

2 SubmittersRCV000433929 RCV001352422

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

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

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

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
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
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)

SNV
Germline

Chr1:201041534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083722

rs_550371466

9 SubmittersRCV000454946 RCV000782224 RCV001096066 RCV000814679 RCV005239013 RCV005010330 RCV004751528 RCV005355786

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_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)

SNV
Germline

Chr1:201047546

Conflicting classifications of pathogenicity

Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA16617038

rs_970352258

6 SubmittersRCV000481252 RCV003449233 RCV003449232 RCV001851232 RCV002481522 RCV003449231 RCV003458442

NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)

SNV
Germline

Chr1:201073607

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
not specified
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA078805

rs_147112322

7 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV005010393 RCV001724025 RCV004751562

NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser)

SNV
Germline

Chr1:229432333

Pathogenic/Likely pathogenic

Condition: not provided
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA16617084

rs_1064794287

3 SubmittersRCV000485242 RCV002525830 RCV005001067

NM_001164508.2(NEB):c.2415+1G>A

SNV
Germline

Chr2:151688291

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16617246

rs_1057524581

4 SubmittersRCV000487268 RCV001382399 RCV002265777 RCV005621951

NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)

SNV
Germline

Chr12:40922306

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6516571

rs_142755965

2 SubmittersRCV001044442 RCV000481172

NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)

SNV
Germline

Chr12:41025270

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6517196

rs_138121813

2 SubmittersRCV001205215 RCV000487172

NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)

SNV
Germline

Chr1:201078005

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078266

rs_150590855

8 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV005010400 RCV003168987 RCV005401467

NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)

SNV
Germline

Chr12:57244222

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Bailey-Bloch congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA6646959

rs_371720347

6 SubmittersRCV000487670 RCV001267514 RCV000677630

NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)

SNV
Germline

Chr16:722982

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789106

rs_369081589

3 SubmittersRCV000487557 RCV001851289 RCV002525992

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

SNV
Germline

Chr19:38473772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV004722827 RCV002489200 RCV003757181 RCV004806371

NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)

SNV
Germline

Chr1:201074521

Conflicting classifications of pathogenicity

Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078757

rs_141031133

6 SubmittersRCV005004190 RCV001262359 RCV000494517 RCV004003478 RCV000688405

NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)

SNV
Germline

Chr12:40959179

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
not specified

Criteria Provided
Conflicting Classifications

CA6516926

rs_768838928

2 SubmittersRCV000871125 RCV000503918

NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)

SNV
Germline

Chr16:724716

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789446

rs_752077571

3 SubmittersRCV000540447 RCV000504010 RCV004965507

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

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

Criteria Provided
Conflicting Classifications

CA065302

rs_146407179

6 SubmittersRCV000509349 RCV004003564 RCV001223356 RCV001703183

NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)

SNV
Germline

Chr1:201089385

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Condition: not provided
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA083997

rs_35534614

8 SubmittersRCV001081811 RCV003517213 RCV005004204 RCV000514356 RCV003935341

NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr1:201060785

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Intellectual disability

Criteria Provided
Conflicting Classifications

CA079631

rs_142102094

6 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655

NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)

SNV
Germline

Chr1:201078006

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078265

rs_532351874

6 SubmittersRCV003487271 RCV004023496 RCV005004207 RCV000518320 RCV001241845

NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)

SNV
Germline

Chr7:143346201

Conflicting classifications of pathogenicity

Condition: not provided
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537596

rs_144612641

5 SubmittersRCV000516763 RCV001165266 RCV000552273

NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)

SNV
Germline

Chr16:724186

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
not specified

Criteria Provided
Conflicting Classifications

CA7789312

rs_780197880

2 SubmittersRCV000650516 RCV000516842

NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)

SNV
Germline

Chr16:725464

Conflicting classifications of pathogenicity

Condition: not provided
CCDC78-related disorder
Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7789632

rs_145274257

5 SubmittersRCV000518150 RCV003915450 RCV000559318 RCV004601192 RCV005000073

NM_152263.4(TPM3):c.455C>T (p.Ala152Val)

SNV
Germline

Chr1:154173124

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342584351

rs_1553249076

2 SubmittersRCV000522047 RCV001857960

NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)

SNV
Germline

Chr1:201069581

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078972

rs_760674518

4 SubmittersRCV000519296 RCV001225189 RCV005010484

NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)

SNV
Germline

Chr1:201083299

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078097

rs_370861322

4 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003449493 RCV003458449 RCV005010481

NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)

SNV
Germline

Chr7:143351862

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537805

rs_150796358

7 SubmittersRCV000711231 RCV000798907 RCV001161762 RCV003883154

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

SNV
Germline

Chr19:38512484

Pathogenic

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Congenital myopathy with fiber type disproportion
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

CA073621

rs_776697656

7 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622 RCV004737600

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

SNV
Germline

Chr19:38573308

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA060836

rs_142929172

4 SubmittersRCV000519097 RCV001851492 RCV002497013

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_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)

SNV
Germline

Chr1:201039903

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083898

rs_141556780

3 SubmittersRCV000535113 RCV004586790 RCV005010524

NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)

SNV
Germline

Chr1:201040302

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA083800

rs_200434921

7 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223 RCV005010523 RCV005431759

NM_001100.4(ACTA1):c.811A>G (p.Met271Val)

SNV
Germline

Chr1:229431900

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Condition: not provided
Congenital myopathy 4A, autosomal dominant
Actin accumulation myopathy
Progressive scapulohumeroperoneal distal myopathy

Criteria Provided
Conflicting Classifications

CA345146297

rs_1553255361

3 SubmittersRCV000542841 RCV003139768 RCV005409671

NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)

SNV
Germline

Chr1:201085495

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA077944

rs_763360081

3 SubmittersRCV000529687 RCV001584331 RCV005004239

NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)

SNV
Germline

Chr1:201058433

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA082633

rs_200366112

3 SubmittersRCV000546815 RCV003487272 RCV005004242

NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)

SNV
Germline

Chr1:201075591

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078626

rs_149195094

2 SubmittersRCV000532209 RCV005010522

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_003289.4(TPM2):c.374+9G>C

SNV
Germline

Chr9:35685638

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A
TPM2-related disorder

Criteria Provided
Conflicting Classifications

CA5047388

rs_200730708

3 SubmittersRCV001168543 RCV000556694 RCV004541649

NM_001843.4(CNTN1):c.1683+1G>A

SNV
Germline

Chr12:40944171

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384425188

rs_1555185778

1 SubmittersRCV000539454

NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)

SNV
Germline

Chr12:41027941

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384587984

rs_1555201269

1 SubmittersRCV000526899

NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly)

SNV
Germline

Chr12:40939386

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6516829

rs_141706688

2 SubmittersRCV000526090 RCV004592588

NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln)

SNV
Germline

Chr15:33722793

Conflicting classifications of pathogenicity

Epileptic encephalopathy
Condition: not provided
Congenital myopathy 20

Criteria Provided
Conflicting Classifications

CA7459649

rs_199648816

3 SubmittersRCV000526774 RCV002060306 RCV005409669

NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)

SNV
Germline

Chr16:722948

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
CCDC78-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789100

rs_760280521

4 SubmittersRCV000546211 RCV003945300 RCV004024230 RCV004704089

NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln)

SNV
Germline

Chr16:723009

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789117

rs_771507948

2 SubmittersRCV000538424 RCV004965567

NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)

SNV
Germline

Chr16:725480

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789636

rs_201924732

2 SubmittersRCV000544640 RCV004024231

NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)

SNV
Germline

Chr16:725483

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789638

rs_745392382

3 SubmittersRCV000534408 RCV001755887 RCV004601206

NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr16:725257

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA7789584

rs_200825023

2 SubmittersRCV000548973 RCV005357605

NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)

SNV
Germline

Chr16:725261

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789585

rs_370998388

2 SubmittersRCV000537626 RCV003156257

NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)

SNV
Germline

Chr17:63947061

Pathogenic/Likely pathogenic

Familial hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8709288

rs_780703403

3 SubmittersRCV000557400 RCV003227493 RCV004820047

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

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV004024433 RCV002476208

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV003999490 RCV002497202

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

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

6 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108 RCV004802183

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

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV002497201 RCV000827374 RCV001078943 RCV003999489

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

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

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

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
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

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380

NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related congenital myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5293180

rs_757903559

8 SubmittersRCV000819538 RCV000591710 RCV002532650 RCV003459474 RCV004586824 RCV005407785

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_000069.3(CACNA1S):c.1290G>A (p.Lys430=)

SNV
Germline

Chr1:201083265

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA422691707

rs_1241905770

4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422

NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)

SNV
Germline

Chr1:201043333

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083650

rs_145340252

4 SubmittersRCV000613062 RCV001313278 RCV003456104 RCV003456105 RCV003456106 RCV003458476 RCV004601221

NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)

SNV
Germline

Chr2:178674347

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA1998012

rs_752903377

5 SubmittersRCV000615121 RCV000732481 RCV000769040 RCV005625703

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

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758

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

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

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

SNV
Germline

Chr1:154176194

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342585012

rs_121964853

1 SubmittersRCV000637290

NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)

SNV
Germline

Chr1:201043468

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA1321791

rs_756066219

3 SubmittersRCV000651212 RCV002530539 RCV005004304

NM_000069.3(CACNA1S):c.5049-2A>G

SNV
Germline

Chr1:201041591

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
not specified
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083706

rs_148989517

5 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308

NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)

SNV
Germline

Chr1:201044407

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083555

rs_183195890

8 SubmittersRCV000651269 RCV002493045 RCV003451580 RCV003458497 RCV003451581 RCV004792337 RCV003451582 RCV003953183 RCV004025825

NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)

SNV
Germline

Chr1:201047600

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083380

rs_149036408

6 SubmittersRCV001515531 RCV000711146 RCV003451564 RCV003451566 RCV003458489 RCV003451565 RCV005010632

NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)

SNV
Germline

Chr1:201048683

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
not specified

Criteria Provided
Conflicting Classifications

CA083251

rs_377474103

6 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV005004306 RCV003451556 RCV003456115 RCV003458485 RCV005000459

NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)

SNV
Germline

Chr1:201077941

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078399

rs_200066766

4 SubmittersRCV000651227 RCV005004307 RCV004004092 RCV005623352

NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)

SNV
Germline

Chr12:41029162

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384588280

rs_1555201480

1 SubmittersRCV000645985

NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)

SNV
Germline

Chr16:725102

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789543

rs_560987339

2 SubmittersRCV000650511 RCV002531962

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

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125554 RCV001125555 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
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

6 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131

NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)

SNV
Germline

Chr1:201078033

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA078252

rs_138364213

7 SubmittersRCV000658423 RCV001096478 RCV002536327 RCV001855376 RCV004004191 RCV005010641 RCV003392506

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

SNV
Germline

Chr19:38502879

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV003591771 RCV002493120

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

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

5 SubmittersRCV000680086 RCV001784304 RCV001861877 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_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)

SNV
Germline

Chr1:201060666

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079656

rs_145039828

4 SubmittersRCV000686554 RCV002547103 RCV004004250 RCV005004363

NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)

SNV
Germline

Chr1:201061984

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079482

rs_149658326

5 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV004783841

NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)

SNV
Germline

Chr5:127340630

Conflicting classifications of pathogenicity

MEGF10-related myopathy
Congenital myopathy 10b, mild variant

Criteria Provided
Conflicting Classifications

CA127484629

rs_200163743

2 SubmittersRCV000699779 RCV003989586

NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr12:57244604

Pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

CA385411906

rs_1202215410

1 SubmittersRCV000700459

NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala)

SNV
Germline

Chr16:724763

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
not specified

Criteria Provided
Conflicting Classifications

CA7789458

rs_749951287

3 SubmittersRCV000685832 RCV005436010

NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)

SNV
Germline

Chr16:726345

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789781

rs_181469519

4 SubmittersRCV000698790 RCV001288562 RCV004965689

NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)

SNV
Germline

Chr16:722942

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789095

rs_142180051

2 SubmittersRCV000694693 RCV004569324

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

SNV
Germline

Chr19:38565438

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV003999596 RCV002477569

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

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
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

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

7 SubmittersRCV000693287 RCV002531464 RCV003999595 RCV002477568 RCV003130003

NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)

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_000083.3(CLCN1):c.412G>A (p.Val138Ile)

SNV
Germline

Chr7:143320774

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
CLCN1-related disorder

Criteria Provided
Conflicting Classifications

CA4536928

rs_762344462

5 SubmittersRCV000711232 RCV001405014 RCV001163064 RCV004544955

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

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

4 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
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

5 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902

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

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924 RCV004702371

NM_003289.4(TPM2):c.269G>A (p.Arg90His)

SNV
Germline

Chr9:35685752

Likely pathogenic

Congenital myopathy 23

Criteria Provided
Single Submitter

CA373368501

rs_1563929454

1 SubmittersRCV000754748

NM_000069.3(CACNA1S):c.4113+1G>A

SNV
Germline

Chr1:201050983

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344149425

rs_1558056376

5 SubmittersRCV001378977 RCV000782244 RCV003141766 RCV005012304 RCV003446433

NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)

SNV
Germline

Chr1:201053459

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082845

rs_201627041

6 SubmittersRCV000782249 RCV005004416 RCV001377927 RCV003453617 RCV003453618

NM_000069.3(CACNA1S):c.2491-1G>T

SNV
Germline

Chr1:201069197

Likely pathogenic

Condition: not provided
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Single Submitter

CA344106187

rs_1558067283

2 SubmittersRCV000782245 RCV005004415

NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)

SNV
Germline

Chr1:201070363

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078912

rs_770073633

5 SubmittersRCV001869163 RCV000782246 RCV002493430 RCV003456143 RCV003456144 RCV003458516 RCV003453616

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

SNV
Germline

Chr1:154176221

Pathogenic

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

Criteria Provided
Single Submitter

CA342585072

rs_1571418855

1 SubmittersRCV000808390

NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)

SNV
Germline

Chr1:201041533

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083724

rs_201310235

6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV005004433 RCV004001641

NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)

SNV
Germline

Chr1:201043342

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Condition: not provided
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083643

rs_141618437

4 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370

NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)

SNV
Germline

Chr1:201044339

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083571

rs_751048080

3 SubmittersRCV000807837 RCV003353041 RCV005004439

NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)

SNV
Germline

Chr1:201044394

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083561

rs_202120583

3 SubmittersRCV000797715 RCV005012324 RCV003517268

NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)

SNV
Germline

Chr1:201047144

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083476

rs_757433005

3 SubmittersRCV000794541 RCV000994222 RCV005012319

NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)

SNV
Germline

Chr1:201050460

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083135

rs_371849585

5 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350

NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)

SNV
Germline

Chr1:201050464

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083133

rs_756438139

5 SubmittersRCV000822773 RCV001508030 RCV003517272 RCV005012378

NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)

SNV
Germline

Chr1:201062034

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079453

rs_747618077

4 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429

NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)

SNV
Germline

Chr1:201066951

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079119

rs_201205904

5 SubmittersRCV000800242 RCV003489884 RCV003517269 RCV005004432

NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)

SNV
Germline

Chr1:201070336

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078922

rs_771865391

6 SubmittersRCV000803519 RCV001585731 RCV003453674 RCV003453673 RCV003458533 RCV003908099 RCV003453675 RCV004702433 RCV004601284

NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)

SNV
Germline

Chr1:201085002

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078030

rs_112236248

3 SubmittersRCV000807536 RCV003517271 RCV005004438

NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)

SNV
Germline

Chr1:229432727

Pathogenic

Actin accumulation myopathy
Congenital myopathy
Alpha-actinopathy

Reviewed By Expert Panel

CA345150112

rs_1571893814

4 SubmittersRCV000810437 RCV004586937 RCV004994034

NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)

SNV
Germline

Chr7:143323374

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA4537072

rs_772027125

3 SubmittersRCV000822037 RCV001836901

NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)

SNV
Germline

Chr7:143330880

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
not specified

Criteria Provided
Conflicting Classifications

CA4537184

rs_780150093

3 SubmittersRCV000800361 RCV001836890 RCV005438035

NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)

SNV
Germline

Chr7:143342467

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy

Criteria Provided
Conflicting Classifications

CA4537504

rs_749762818

2 SubmittersRCV000794383 RCV001163173

NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val)

SNV
Germline

Chr16:724409

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789371

rs_371760552

2 SubmittersRCV000806322 RCV005306163

NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp)

SNV
Germline

Chr16:725815

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789699

rs_201503907

2 SubmittersRCV000813173 RCV004601288

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

SNV
Germline

Chr19:38466204

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405634883

rs_1440262870

5 SubmittersRCV000811818 RCV003141824 RCV002495127 RCV004001735

NM_145064.3(STAC3):c.997-1G>T

SNV
Germline

Chr12:57243911

Pathogenic

Bailey-Bloch congenital myopathy

No Assertion Criteria Provided

CA237754931

rs_779483367

2 SubmittersRCV000851531

NM_000257.4(MYH7):c.5655+5G>C

SNV
Germline

Chr14:23414002

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Congenital myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA915948813

rs_1595070689

2 SubmittersRCV000855671 RCV002538879

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

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

4 SubmittersRCV000867181 RCV002487901 RCV004002997

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

SNV
Germline

Chr1:229432016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442804

rs_141030526

3 SubmittersRCV000877200 RCV001099825 RCV001099824 RCV001545990

NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)

SNV
Germline

Chr1:201065853

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA422686681

rs_759934490

6 SubmittersRCV000887743 RCV002501438 RCV003454932 RCV003413713 RCV003454930 RCV003454931 RCV003458569

NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)

SNV
Germline

Chr1:201083241

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078127

rs_146400205

3 SubmittersRCV000926262 RCV005004466 RCV004003214

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_001378030.1(CCDC78):c.755G>A (p.Trp252Ter)

SNV
Germline

Chr16:724691

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA7789440

rs_142133229

2 SubmittersRCV000914903 RCV005367625

NM_000083.3(CLCN1):c.705C>T (p.Phe235=)

SNV
Germline

Chr7:143323317

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537056

rs_760323048

3 SubmittersRCV001165162 RCV001433251 RCV003320775

NM_000069.3(CACNA1S):c.3255+10C>T

SNV
Germline

Chr1:201061257

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA915941962

rs_1572035084

2 SubmittersRCV001484810 RCV005012404

NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)

SNV
Unknown

Chr1:154191976

Likely pathogenic

Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

CA342587513

rs_1553251644

1 SubmittersRCV000986418

NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)

SNV
Unknown

Chr1:154192012

Likely pathogenic

Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

CA342587599

rs_1571456678

1 SubmittersRCV000986419

NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)

SNV
Germline

Chr1:201075539

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078661

rs_144590408

5 SubmittersRCV001035245 RCV004004424 RCV005532810 RCV005004476

NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)

SNV
Germline

Chr1:201077907

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078427

rs_751671175

5 SubmittersRCV001101909 RCV005012426 RCV001248214 RCV003458582 RCV003455023 RCV003455024

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

SNV
Germline

Chr19:38446508

Conflicting classifications of pathogenicity

Condition: not provided
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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068570

rs_766836202

5 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

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

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001862742 RCV002479200 RCV001004922 RCV004004475 RCV002305557

NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)

SNV
Germline

Chr15:33603200

Conflicting classifications of pathogenicity

Flexion contracture
Congenital myopathy 20

No Assertion Criteria Provided

CA391562871

rs_1314283337

2 SubmittersRCV001007853 RCV003160165

NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)

SNV
Germline

Chr1:201047167

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083466

rs_774256022

3 SubmittersRCV001038054 RCV004004718 RCV005004495

NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)

SNV
Germline

Chr1:201077916

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA078419

rs_80338778

7 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781 RCV004761906

NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)

SNV
Germline

Chr1:201089374

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083998

rs_186538122

3 SubmittersRCV001071065 RCV003455303 RCV002489712 RCV003455301 RCV003455302 RCV003458616

NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)

SNV
Germline

Chr1:201089401

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083990

rs_555596737

3 SubmittersRCV001071805 RCV005012532 RCV004000208

NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)

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_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)

SNV
Germline

Chr12:40943701

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6516865

rs_201639044

2 SubmittersRCV001042684 RCV003353121

NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)

SNV
Germline

Chr15:33311056

Conflicting classifications of pathogenicity

Epileptic encephalopathy
not specified
Congenital myopathy 20

Criteria Provided
Conflicting Classifications

CA7457630

rs_375998723

3 SubmittersRCV001063110 RCV004030481 RCV003492216

NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr16:724930

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789495

rs_368147684

2 SubmittersRCV001038657 RCV003363055

NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)

SNV
Germline

Chr16:725423

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789624

rs_147899031

2 SubmittersRCV001041507 RCV004031254

NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)

SNV
Germline

Chr17:63945465

Conflicting classifications of pathogenicity

Familial hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Condition: not provided
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA400617905

rs_1181083611

4 SubmittersRCV001065707 RCV003227512 RCV004792710 RCV002512136

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

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV002505620 RCV001784614 RCV004000105

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

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

5 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
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

4 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
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
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
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

3 SubmittersRCV001057839 RCV002482022 RCV004000093

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

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
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
Central core myopathy

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

5 SubmittersRCV001040954 RCV003130110 RCV002481884 RCV004819235

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

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054848

rs_374325589

4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962

NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)

SNV
Germline

Chr1:201044446

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083530

rs_372436488

6 SubmittersRCV001092292 RCV001437600 RCV005012549 RCV004000216 RCV004609622

NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)

SNV
Germline

Chr1:201065906

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079290

rs_146903750

3 SubmittersRCV002995961 RCV005401995 RCV005010857

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

SNV
Germline

Chr19:38519244

Conflicting classifications of pathogenicity

Condition: not provided
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
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

5 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV005409773 RCV004000222

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_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)

SNV
Germline

Chr1:201069148

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079050

rs_764821044

4 SubmittersRCV001098033 RCV001504451 RCV003455453 RCV003458626 RCV003455454

NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)

SNV
Germline

Chr1:201077110

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078494

rs_373525085

4 SubmittersRCV001099902 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV001856354

NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)

SNV
Germline

Chr1:201091678

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083935

rs_771569004

4 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198

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
Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

CA423754785

rs_1659932688

2 SubmittersRCV001096303 RCV001101723 RCV001101722

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

SNV
Germline

Chr1:229432575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442882

rs_371410845

2 SubmittersRCV001098140 RCV001098141 RCV001098139

NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)

SNV
Germline

Chr7:143339294

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Conflicting Classifications

CA4537374

rs_781587827

2 SubmittersRCV003769774 RCV001161644

NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)

SNV
Germline

Chr7:143342407

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
not specified
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537497

rs_763850295

4 SubmittersRCV001163171 RCV003323800 RCV001358944 RCV004800707

NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)

SNV
Germline

Chr7:143345607

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Conflicting Classifications

CA4537527

rs_200385034

2 SubmittersRCV003769787 RCV001163174

NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe)

SNV
Germline

Chr7:143351820

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537793

rs_769053787

3 SubmittersRCV001161761 RCV005005057 RCV005225247

NM_000083.3(CLCN1):c.697-9C>A

SNV
Germline

Chr7:143323300

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537054

rs_201207110

2 SubmittersRCV001165161 RCV003769798

NM_000083.3(CLCN1):c.1251+14G>A

SNV
Germline

Chr7:143332517

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA168214108

rs_1027351084

2 SubmittersRCV001158442 RCV003769757

NM_003289.4(TPM2):c.558C>T (p.Ala186=)

SNV
Germline

Chr9:35685274

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA5047332

rs_746177794

2 SubmittersRCV001168541 RCV001168542

NM_001100.4(ACTA1):c.593G>A (p.Arg198His)

SNV
Germline

Chr1:229432293

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

CA345147895

rs_2527437739

1 SubmittersRCV003228209

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA389049378

rs_397516127

4 SubmittersRCV001196247 RCV002418658 RCV001349517 RCV003106156

NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)

SNV
Germline

Chr1:201061398

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079556

rs_562504992

4 SubmittersRCV001222445 RCV005012632 RCV004010745 RCV004601406

NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)

SNV
Germline

Chr12:109814571

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780589

rs_777647151

3 SubmittersRCV001587231 RCV005622077 RCV001214255

NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)

SNV
Germline

Chr16:723117

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789144

rs_376513788

2 SubmittersRCV001224264 RCV004032500

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

SNV
Germline

Chr19:38499636

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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069044

rs_138617219

3 SubmittersRCV001217935 RCV002504268 RCV005402988

NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)

SNV
Germline

Chr1:201070357

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078915

rs_777247285

2 SubmittersRCV001202456 RCV005005069

NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)

SNV
Germline

Chr16:725865

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789709

rs_145112523

3 SubmittersRCV001208077 RCV001354253 RCV002561668

NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)

SNV
Germline

Chr12:40936894

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6516778

rs_201534221

2 SubmittersRCV001228987 RCV002563155

NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)

SNV
Germline

Chr1:201077991

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078278

rs_140246559

5 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787

NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)

SNV
Germline

Chr1:201069596

Conflicting classifications of pathogenicity

skeletal contractures
Muscular atrophy
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA344108070

rs_1157720606

6 SubmittersRCV001254711 RCV003145495 RCV003449815 RCV003152617 RCV003456486 RCV003449816

NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)

SNV
Germline

Chr9:35683232

Pathogenic/Likely pathogenic

Congenital myopathy 23
Arthrogryposis, distal, type 1A
Condition: not provided
TPM2-related myopathy
Congenital myopathy 23

Criteria Provided
Multiple Submitters
No Conflicts

CA373363229

rs_1824676022

7 SubmittersRCV001254895 RCV001573796 RCV003389253 RCV004800758

NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)

SNV
Germline

Chr1:201066989

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079080

rs_200334886

2 SubmittersRCV001307461 RCV005005154

NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)

SNV
Germline

Chr1:201078032

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078255

rs_553739117

3 SubmittersRCV001297932 RCV002285472 RCV005012736

NM_000069.3(CACNA1S):c.258+6A>G

SNV
Germline

Chr1:201110158

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079098

rs_376899610

4 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446705 RCV003446706 RCV005005174

NM_001378030.1(CCDC78):c.1134-19C>T

SNV
Germline

Chr16:723180

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA723497369

rs_1320283995

2 SubmittersRCV001335566

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

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

4 SubmittersRCV001334520 RCV002476551 RCV001865812 RCV004005143

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

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV003591856 RCV002499657 RCV004005144

NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)

SNV
Germline

Chr1:201066897

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA079154

rs_553593355

3 SubmittersRCV001343372 RCV003449967 RCV005005190 RCV003449965 RCV003449966 RCV003458673

NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val)

SNV
Germline

Chr1:201075588

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078628

rs_776996468

3 SubmittersRCV001347797 RCV004808022 RCV005005858

NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)

SNV
Germline

Chr1:201049091

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083203

rs_372383822

3 SubmittersRCV001372444 RCV002548661 RCV005005894

NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)

SNV
Germline

Chr1:201072764

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078873

rs_752513328

5 SubmittersRCV001372783 RCV003169919 RCV003517329 RCV005005896

NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)

SNV
Germline

Chr1:201112255

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084021

rs_577022740

3 SubmittersRCV001367207 RCV004006807 RCV005005214

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

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

3 SubmittersRCV001370548 RCV004006823 RCV002504621

NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)

SNV
Germline

Chr17:63971725

Pathogenic

Familial hyperkalemic periodic paralysis
Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

CA292972679

rs_933258893

2 SubmittersRCV001387955 RCV003227973

NM_000069.3(CACNA1S):c.4242-10C>G

SNV
Germline

Chr1:201049109

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083175

rs_574154912

4 SubmittersRCV001411221 RCV002493969 RCV003446745 RCV003446747 RCV003446746 RCV003446748

NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln)

SNV
Germline

Chr16:723003

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789113

rs_141141442

3 SubmittersRCV001432701 RCV004706140 RCV004968167

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_000083.3(CLCN1):c.1393G>T (p.Val465Phe)

SNV
Germline

Chr7:143332865

Likely pathogenic

Batten-Turner congenital myopathy

Criteria Provided
Single Submitter

CA369644393

rs_139158852

1 SubmittersRCV001837017

NM_213674.1(TPM2):c.773-2A>C

SNV
Unknown

Chr9:35682165

Likely pathogenic

Congenital myopathy 23

Criteria Provided
Single Submitter

CA373360161

rs_2131843731

1 SubmittersRCV001730076

NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)

SNV
Germline

Chr1:201049077

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344146480

rs_1224786667

5 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV005006037 RCV004009035

NM_145064.3(STAC3):c.432+1G>A

SNV
Germline

Chr12:57248705

Likely pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

CA6647152

rs_780801708

1 SubmittersRCV001824231

NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)

SNV
Germline

Chr1:201048587

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083346

rs_780785403

3 SubmittersRCV002047777 RCV005008399 RCV005308678

NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)

SNV
Germline

Chr1:201065918

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079286

rs_138708497

3 SubmittersRCV001877178 RCV002551094 RCV005005323

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

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068817

rs_761154999

4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346

NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)

SNV
Germline

Chr1:201053508

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA082794

rs_775009783

5 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644

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

SNV
Germline

Chr19:38575917

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
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
Conflicting Classifications

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV003325593 RCV004010985 RCV002497871

NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)

SNV
Germline

Chr1:201076928

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078581

rs_377461013

3 SubmittersRCV002029875 RCV005006093 RCV005241469

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

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV004009225 RCV005253914 RCV002490033 RCV005409051

NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser)

SNV
Germline

Chr1:201110183

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078980

rs_752667224

3 SubmittersRCV001903409 RCV004010831 RCV005002651

NM_032578.4(MYPN):c.1317+1G>A

SNV
Germline

Chr10:68150112

Likely pathogenic

Dilated cardiomyopathy 1KK
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA5522509

rs_766502564

2 SubmittersRCV002023592 RCV004774613

NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)

SNV
Germline

Chr1:201040302

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083801

rs_200434921

3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818

NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)

SNV
Germline

Chr16:724754

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789455

rs_147504073

2 SubmittersRCV001893529 RCV003326593

NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)

SNV
Germline

Chr1:229432992

Pathogenic

Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant
Alpha-actinopathy

Reviewed By Expert Panel

CA345151235

rs_2102736554

3 SubmittersRCV002000054 RCV003228037 RCV004813198

NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr)

SNV
Germline

Chr1:201093996

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079319

rs_550479246

3 SubmittersRCV001957912 RCV005432862 RCV005006273

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

SNV
Germline

Chr1:154191975

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342587508

rs_2148295444

1 SubmittersRCV002014040

NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)

SNV
Germline

Chr1:201089451

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083969

rs_767790285

4 SubmittersRCV002001260 RCV004011066 RCV005002755 RCV005535221

NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser)

SNV
Germline

Chr16:723933

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
not specified

Criteria Provided
Conflicting Classifications

CA7789271

rs_754906673

2 SubmittersRCV002051003 RCV005437379

NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg)

SNV
Germline

Chr1:201054513

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082687

rs_776908038

3 SubmittersRCV001944023 RCV004010935 RCV005006257

NM_000069.3(CACNA1S):c.3053+19C>G

SNV
Germline

Chr1:201061925

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079503

rs_372276351

3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947

NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)

SNV
Germline

Chr16:724382

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276519826

rs_770130604

2 SubmittersRCV001896225 RCV004041456

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_001843.4(CNTN1):c.771A>G (p.Gln257=)

SNV
Germline

Chr12:40933528

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA479274061

rs_2136919555

2 SubmittersRCV001961140 RCV004694053

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

SNV
Germline

Chr1:154173178

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051308

rs_2526056353

3 SubmittersRCV002285529 RCV005412365

NM_000069.3(CACNA1S):c.1619+16G>A

SNV
Germline

Chr1:201077863

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078446

rs_148454228

2 SubmittersRCV002073533 RCV005002794

NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln)

SNV
Germline

Chr12:40933720

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6516725

rs_201607834

2 SubmittersRCV002108630 RCV005542722

NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)

SNV
Germline

Chr16:726340

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789780

rs_769964986

2 SubmittersRCV002108665 RCV004046471

NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)

SNV
Germline

Chr1:201043446

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083621

rs_576536458

5 SubmittersRCV003149015 RCV005002793 RCV002176965 RCV004011197

NM_000069.3(CACNA1S):c.1948+11G>A

SNV
Germline

Chr1:201075484

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078683

rs_199852936

3 SubmittersRCV002122531 RCV004711821 RCV005008462

NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)

SNV
Germline

Chr10:17603585

Likely pathogenic

Congenital myopathy 11

Criteria Provided
Single Submitter

CA376196412

rs_2493868037

2 SubmittersRCV002271331

NM_014241.4(HACD1):c.785-1G>T

SNV
Germline

Chr10:17590447

Pathogenic

Congenital myopathy 11

No Assertion Criteria Provided

CA376192472

rs_2493841471

1 SubmittersRCV002271332

NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)

SNV
Germline

Chr1:201077027

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078529

rs_773440873

5 SubmittersRCV002288338 RCV003101662 RCV003325600 RCV005008524

NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)

SNV
Germline

Chr20:45824594

Pathogenic

Congenital myopathy 15

No Assertion Criteria Provided

CA409189138

rs_2515818511

1 SubmittersRCV002472359

NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)

SNV
Germline

Chr20:45824369

Pathogenic

Congenital myopathy 15

No Assertion Criteria Provided

CA409188436

rs_1804548

1 SubmittersRCV002472360

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

Criteria Provided
Single Submitter

CA342585070

rs_199474713

1 SubmittersRCV003058660

NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)

SNV
Germline

Chr1:201060811

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079627

rs_34515088

3 SubmittersRCV003068704 RCV005010945 RCV004808407

NM_000069.3(CACNA1S):c.258+2T>C

SNV
Germline

Chr1:201110162

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA344155586

rs_1663041820

2 SubmittersRCV003092933 RCV005002953

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_001378030.1(CCDC78):c.1311C>G (p.His437Gln)

SNV
Germline

Chr16:722780

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789056

rs_775569629

2 SubmittersRCV002603632 RCV004614374

NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)

SNV
Germline

Chr1:201066909

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079149

rs_573597311

3 SubmittersRCV002647291 RCV005002970 RCV004009491

NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)

SNV
Germline

Chr1:201062017

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079469

rs_369941827

3 SubmittersRCV002637771 RCV005011075 RCV005623503

NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)

SNV
Germline

Chr1:201061410

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1321809

rs_1473668614

5 SubmittersRCV002628591 RCV004009498 RCV003491260 RCV005011071 RCV005323375

NM_001256545.2(MEGF10):c.2857-14T>A

SNV
Germline

Chr5:127449085

Conflicting classifications of pathogenicity

MEGF10-related myopathy
MEGF10-related myopathy
Congenital myopathy 10b, mild variant

Criteria Provided
Conflicting Classifications

CA3392055

rs_751955381

2 SubmittersRCV002624659 RCV005034802

NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)

SNV
Germline

Chr1:201110241

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078582

rs_147382463

3 SubmittersRCV003104780 RCV004725634 RCV005011206

NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)

SNV
Germline

Chr1:201047564

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA344143120

rs_1263776472

2 SubmittersRCV002575936 RCV005008611

NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)

SNV
Germline

Chr1:201062033

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079456

rs_778128095

2 SubmittersRCV002572843 RCV005008622

NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)

SNV
Germline

Chr2:151609977

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348777384

rs_2097887468

4 SubmittersRCV002705678 RCV005254127 RCV004571212 RCV005626683

NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)

SNV
Germline

Chr1:201089368

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084002

rs_779029870

4 SubmittersRCV002727016 RCV005008721 RCV004007566

NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg)

SNV
Germline

Chr12:41014260

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384586501

rs_1299674857

2 SubmittersRCV002780284 RCV004973602

NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)

SNV
Germline

Chr16:724958

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA7789504

rs_751262117

3 SubmittersRCV002851976 RCV004966135 RCV005356203

NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)

SNV
Germline

Chr1:201043479

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344137438

rs_1313984683

3 SubmittersRCV002886044 RCV004066004 RCV005008781

NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)

SNV
Germline

Chr1:201070315

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078925

rs_566562378

3 SubmittersRCV002895751 RCV004750783 RCV005002898

NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)

SNV
Germline

Chr1:201075554

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA078650

rs_150646872

4 SubmittersRCV002882236 RCV005008775 RCV004007657 RCV003409948

NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu)

SNV
Germline

Chr12:41016794

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6517101

rs_267603461

2 SubmittersRCV002938144 RCV005542858

NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)

SNV
Germline

Chr16:725252

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394103103

rs_776425669

2 SubmittersRCV002944004 RCV005535478

NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)

SNV
Germline

Chr2:151664533

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital myopathy
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1910373

rs_374677022

3 SubmittersRCV003274121 RCV005626716 RCV002972553

NM_145064.3(STAC3):c.670+2T>A

SNV
Germline

Chr12:57245143

Likely pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

CA237756514

rs_112253539

1 SubmittersRCV002944314

NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr12:40922296

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384421921

rs_756907367

1 SubmittersRCV003051748

NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)

SNV
Germline

Chr1:201072758

Pathogenic

Condition: not provided
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA344111792

rs_2464546834

3 SubmittersRCV003120264 RCV003222483

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_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)

SNV
Germline

Chr17:63947083

Conflicting classifications of pathogenicity

Condition: not provided
Familial hyperkalemic periodic paralysis
Congenital myopathy 22A, classic

Criteria Provided
Conflicting Classifications

CA400619401

rs_1287863349

3 SubmittersRCV003136482 RCV003505299 RCV004796779

NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys)

SNV
Germline

Chr15:50915500

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA7558712

rs_773401224

3 SubmittersRCV003141472 RCV005099364 RCV005622220

NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)

SNV
Germline

Chr1:229431848

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA345145991

rs_2527436292

1 SubmittersRCV003152501

NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)

SNV
Germline

Chr1:229432995

Pathogenic

Congenital myopathy 2b, severe infantile, autosomal recessive

No Assertion Criteria Provided

CA345151247

rs_1429699993

1 SubmittersRCV003152503

NM_001100.4(ACTA1):c.809-1G>T

SNV
Germline

Chr1:229431903

Pathogenic

Congenital myopathy 2b, severe infantile, autosomal recessive

No Assertion Criteria Provided

CA345146307

rs_1237221320

1 SubmittersRCV003152505

NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)

SNV
Germline

Chr1:201047615

Pathogenic

Congenital myopathy 18

Criteria Provided
Single Submitter

CA344143483

rs_1282907317

2 SubmittersRCV003152509

NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)

SNV
Germline

Chr1:201072757

Pathogenic

Congenital myopathy 18
Centronuclear myopathy

Criteria Provided
Single Submitter

CA344111786

rs_2102135828

2 SubmittersRCV003152512 RCV004587473

NM_001256545.2(MEGF10):c.2981-2A>G

SNV
Germline

Chr5:127454564

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

CA360715258

rs_2479813429

1 SubmittersRCV003152534

NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)

SNV
Germline

Chr5:127443064

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

CA360734359

rs_2479778910

1 SubmittersRCV003152537

NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)

SNV
Germline

Chr5:127369942

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

CA360825091

rs_2479531357

1 SubmittersRCV003152538

NM_001256545.2(MEGF10):c.1426+1G>T

SNV
Germline

Chr5:127419241

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

CA360729484

rs_2479708318

1 SubmittersRCV003152539

NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)

SNV
Germline

Chr5:127435481

Likely pathogenic

MEGF10-related myopathy
Congenital myopathy 10b, mild variant

Criteria Provided
Single Submitter

CA126960143

rs_1013163272

2 SubmittersRCV003336823 RCV003152540

NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)

SNV
Germline

Chr1:154173134

Pathogenic

Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

CA342584377

rs_2526038543

1 SubmittersRCV003152550

NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)

SNV
Germline

Chr1:201112308

Conflicting classifications of pathogenicity

Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA344158674

rs_1420388292

4 SubmittersRCV003217186 RCV004009670 RCV003779707 RCV005003037

NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)

SNV
Germline

Chr1:78016089

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

CA340907351

rs_2524296398

1 SubmittersRCV003223360

NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)

SNV
Germline

Chr1:78016018

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

CA340907196

rs_2524295993

1 SubmittersRCV003223361

NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)

SNV
Germline

Chr1:78005184

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

CA340902123

rs_1660297324

1 SubmittersRCV003223362

NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)

SNV
Germline

Chr1:78005291

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

CA340902375

rs_1353267621

1 SubmittersRCV003223363

NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)

SNV
Germline

Chr17:63945454

Pathogenic

Congenital myopathy 22A, classic

No Assertion Criteria Provided

CA400617878

rs_2509290730

1 SubmittersRCV003227546

NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)

SNV
Germline

Chr17:63966200

Pathogenic

Congenital myopathy 22B, severe fetal

No Assertion Criteria Provided

CA400636331

rs_2509317969

1 SubmittersRCV003227547

NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)

SNV
Germline

Chr17:63941503

Pathogenic

Congenital myopathy 22B, severe fetal

No Assertion Criteria Provided

CA400614993

rs_2509284285

1 SubmittersRCV003227549

NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)

SNV
Germline

Chr17:63966221

Pathogenic

Congenital myopathy 22A, classic

No Assertion Criteria Provided

CA400636460

rs_2509318035

1 SubmittersRCV003227550

NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)

SNV
Germline

Chr17:63941942

Likely pathogenic

Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

CA400616194

rs_2509285379

1 SubmittersRCV003315479

NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)

SNV
Germline

Chr17:63944787

Likely pathogenic

Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

CA400617467

rs_2509289236

1 SubmittersRCV003315480

NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr1:229432036

Likely pathogenic

Congenital myopathy
Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA345146596

rs_1558081624

1 SubmittersRCV003333909 RCV003333908

NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr1:229431786

Likely pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

CA345145633

rs_2527436164

1 SubmittersRCV003333919

NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)

SNV
Germline

Chr1:229431857

Pathogenic/Likely pathogenic

Actin accumulation myopathy
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA345146033

rs_2527436311

2 SubmittersRCV003333921 RCV005254772

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

SNV
Germline

Chr1:229432867

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA345151024

rs_367543049

1 SubmittersRCV003333931

NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)

SNV
Unknown

Chr1:229432030

Likely pathogenic

Nemaline myopathy
Congenital myopathy

Criteria Provided
Single Submitter

CA345146567

rs_2527437105

1 SubmittersRCV003333942 RCV003333943

NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)

SNV
Germline

Chr6:100661955

Likely pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

CA144009028

rs_938886650

1 SubmittersRCV003447798

NM_001843.4(CNTN1):c.94+2T>C

SNV
Germline

Chr12:40910107

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384421508

rs_2499292213

1 SubmittersRCV003623600

NM_001843.4(CNTN1):c.704-1G>A

SNV
Germline

Chr12:40933460

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA6516692

rs_374930846

1 SubmittersRCV003623750

NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)

SNV
Germline

Chr12:40959141

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384425259

rs_1174434961

1 SubmittersRCV003622204

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_000069.3(CACNA1S):c.2385C>A (p.Ile795=)

SNV
Germline

Chr1:201069577

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078974

rs_200730765

2 SubmittersRCV003789562 RCV005003712

NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)

SNV
Germline

Chr1:201043405

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA35992730

rs_148724065

3 SubmittersRCV003789322 RCV004005977 RCV005003711

NM_000069.3(CACNA1S):c.5049-12C>G

SNV
Germline

Chr1:201041601

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA1219569652

rs_1660213551

3 SubmittersRCV003792706 RCV004006007 RCV005003713

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

SNV
Germline

Chr1:154191185

Likely pathogenic

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

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 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342587281

rs_2148294647

1 SubmittersRCV003802400

NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)

SNV
Germline

Chr1:201051096

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083031

rs_146158332

4 SubmittersRCV003818041 RCV005013201 RCV004721229 RCV005537694

NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr12:40933496

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384422988

rs_2499432719

1 SubmittersRCV003859142

NM_001100.4(ACTA1):c.289C>G (p.Arg97Gly)

SNV
Germline

Chr1:229432721

Likely pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

rs_2527439145

1 SubmittersRCV004586459

NM_014241.4(HACD1):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr10:17603950

Pathogenic

Congenital myopathy 11

Criteria Provided
Single Submitter

rs_2493869193

1 SubmittersRCV004586504

NM_152263.4(TPM3):c.41T>G (p.Leu14Ter)

SNV
Germline

Chr1:154191978

Likely pathogenic

Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV004698745

NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)

SNV
Germline

Chr2:178633978

Pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004723661

NM_000334.4(SCN4A):c.3749T>G (p.Met1250Arg)

SNV
Germline

Chr17:63945032

Likely pathogenic

Congenital myopathy 22A, classic

Criteria Provided
Single Submitter

1 SubmittersRCV004797054

NM_001100.4(ACTA1):c.355G>A (p.Glu119Lys)

SNV
Germline

Chr1:229432655

Likely pathogenic

Actin accumulation myopathy
Progressive scapulohumeroperoneal distal myopathy
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV004795437

NM_001100.4(ACTA1):c.194G>T (p.Gly65Val)

SNV
Germline

Chr1:229432816

Likely pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV004795708

NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)

SNV
Germline

Chr1:201050990

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004805727 RCV005006570

NM_000069.3(CACNA1S):c.3667-3C>T

SNV
Germline

Chr1:201053590

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004805738 RCV005003812

NM_000069.3(CACNA1S):c.4113+2T>C

SNV
Germline

Chr1:201050982

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009365

NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)

SNV
Germline

Chr1:201051123

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009403

NM_000069.3(CACNA1S):c.2658-2A>C

SNV
Germline

Chr1:201066318

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005005755

NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)

SNV
Germline

Chr1:201040666

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005005655

NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)

SNV
Germline

Chr1:201091983

Likely pathogenic

Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005012000

NM_001100.4(ACTA1):c.589G>A (p.Glu197Lys)

SNV
Germline

Chr1:229432297

Likely pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005052916

NM_001843.4(CNTN1):c.1362G>A (p.Trp454Ter)

SNV
Germline

Chr12:40939468