Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_206926.2(SELENON):c.1A>G (p.Met1Val)	SNV Germline	Chr1:25800231	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA253168	rs_121908184	8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)	SNV Germline	Chr1:25809753	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy SEPN1-related disorder Congenital myopathy 4A, autosomal dominant Eichsfeld type congenital muscular dystrophy SELENON-related myopathy Malignant tumor of esophagus Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA223589	rs_121908188	28 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	SNV Germline	Chr17:63941508	Pathogenic	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 Condition: not provided Hyperkalemic periodic paralysis SCN4A-related non-dystrophic myotonia 7 conditions SCN4A-related disorder Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	CA117840	rs_80338792	15 SubmittersRCV000006265 RCV000006264 RCV000479620 RCV000690377 RCV002267601 RCV005016246 RCV005867727 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 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA232703	rs_199474720	4 SubmittersRCV000013260 RCV000128708 RCV000707046
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:154191925	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA232705	rs_80358248	5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	SNV Germline	Chr1:154172971	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4A, autosomal dominant Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion See cases	Criteria Provided Multiple Submitters No Conflicts	CA144541	rs_121964852	10 SubmittersRCV000013263 RCV000128701 RCV000054415 RCV000537032 RCV001420249
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)	SNV Germline	Chr1:154176194	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA232679	rs_121964853	3 SubmittersRCV000013267 RCV000128697 RCV003151724
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	SNV Germline	Chr1:154172972	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant TPM3-related core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA232686	rs_121964854	7 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725 RCV004585998
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	SNV Germline	Chr1:154172972	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4A, autosomal dominant Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Inborn genetic diseases Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA144544	rs_121964854	15 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000637291 RCV000624745 RCV004585999
NM_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	Congenital myopathy 23 Condition: not provided Arthrogryposis, distal, type 1A	Criteria Provided Single Submitter	CA232622	rs_137853306	3 SubmittersRCV000013280 RCV000128672 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	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024311	rs_118192172	32 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024784	rs_28933397	13 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	SNV Germline	Chr19:38443612	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Clubfoot EMG abnormality Lower limb amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035
NM_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 Monogenic diabetes Condition: not provided Rabson-Mendenhall syndrome Bailey-Bloch congenital myopathy Leprechaunism syndrome	Criteria Provided Conflicting Classifications	CA124262	rs_1799816	13 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000445519 RCV000515071 RCV001132184 RCV001258250 RCV001132183
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	SNV Germline	Chr7:143321841	Pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA258012	rs_80356700	14 SubmittersRCV000019084 RCV000020113 RCV000291823 RCV000627758 RCV003317041 RCV004532391
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	SNV Germline	Chr7:143339290	Pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Single Submitter	CA258018	rs_80356694	3 SubmittersRCV000019089 RCV000020101 RCV001237767
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 recessive form Congenital myotonia, autosomal dominant 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	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Myotonia Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA258020	rs_80356690	8 SubmittersRCV000019091 RCV000020117 RCV000626584 RCV000690053 RCV000711241 RCV001196224 RCV004528125
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	SNV Germline	Chr7:143330868	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Condition: not provided 6 conditions Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA258024	rs_80356702	15 SubmittersRCV000019094 RCV000019095 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 Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Myopathy EMG: myopathic abnormalities Tip-toe gait Cerebral palsy Abnormality of the musculature CLCN1-related disorder Congenital myotonia, autosomal recessive form Myotonia levior Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA258028	rs_55960271	37 SubmittersRCV000019099 RCV000019098 RCV000020107 RCV000292791 RCV000627759 RCV000626582 RCV001564017 RCV001794458 RCV001813999 RCV004737160 RCV005428993
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	SNV Germline	Chr7:143320744	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA258030	rs_80356699	4 SubmittersRCV000019100 RCV000020109 RCV001049292 RCV005630706
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 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA004054	rs_28930068	15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	SNV Germline	Chr1:201077915	Conflicting classifications of pathogenicity	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA004021	rs_80338777	18 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389 RCV006547500
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 Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy Congenital myopathy 2b, severe infantile, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA258136	rs_121909523	6 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV002504811 RCV003151732
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)	SNV Germline	Chr1:229431558	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant Alpha-actinopathy	Reviewed By Expert Panel	CA258138	rs_121909524	2 SubmittersRCV003151733 RCV005646762
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)	SNV Germline	Chr1:229431830	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA341495	rs_121909529	3 SubmittersRCV000019951 RCV001028007 RCV003151734
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)	SNV Germline	Chr1:229432134	Likely pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA341497	rs_121909530	4 SubmittersRCV000019952 RCV001851954 RCV003151735
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	SNV Germline	Chr1:229431633	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant Alpha-actinopathy Progressive scapulohumeroperoneal distal myopathy	Reviewed By Expert Panel	CA341499	rs_121909531	5 SubmittersRCV000019953 RCV002513127 RCV003151736 RCV005252692 RCV004767013
NM_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 Myasthenic syndrome, congenital, 1B, fast-channel Lethal multiple pterygium syndrome 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 Condition: not provided Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA341539	rs_80356704	9 SubmittersRCV000020102 RCV000638249 RCV000711222 RCV002267607
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	SNV Germline	Chr7:143330838	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided Congenital myotonia, autosomal dominant form CLCN1-related disorder Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA341557	rs_80356701	12 SubmittersRCV000020118 RCV000477848 RCV000483128 RCV002243656 RCV004541011 RCV004562217
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	MEGF10-related myopathy Congenital myopathy 10b, mild variant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129572	rs_387907072	4 SubmittersRCV000023955 RCV000023956 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 Condition: not provided 7 conditions Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA342800	rs_387907196	24 SubmittersRCV000024369 RCV001092265 RCV000853550 RCV004586024
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Germline	Chr19:38451846	Likely pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023960	rs_118192117	3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)	SNV Germline	Chr19:38566953	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Single Submitter	CA024049	rs_143849895	2 SubmittersRCV000034927 RCV004808560
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)	SNV Germline	Chr19:38485988	Pathogenic	Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Single Submitter	CA024506	rs_367543055	2 SubmittersRCV000034928 RCV003591635
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)	SNV Germline	Chr1:229432867	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344554	rs_367543049	3 SubmittersRCV000034933 RCV000807360 RCV005234924
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	SNV Germline	Chr1:229433100	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344557	rs_367543048	3 SubmittersRCV000034934 RCV000693406 RCV001198948
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)	SNV Germline	Chr1:154176220	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Single Submitter	CA232676	rs_199474713	3 SubmittersRCV000034942 RCV000128696
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)	SNV Germline	Chr2:178733826	Conflicting classifications of pathogenicity	not specified Condition: not provided 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 Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait TTN-related disorder Congenital myopathy Hereditary skeletal muscle disorder	Criteria Provided Conflicting Classifications	CA211174	rs_72648930	20 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV001131551 RCV002225075 RCV004534852 RCV005625233 RCV005625234
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 RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
NM_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	21 SubmittersRCV000074400 RCV001093315 RCV004757959
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_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_206926.2(SELENON):c.103G>C (p.Gly35Arg)	SNV Germline	Chr1:25800333	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA223578	rs_398124359	10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680
NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys)	SNV Germline	Chr1:25815599	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA223586	rs_200128474	10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681
NM_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.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024118	rs_193922868	12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	SNV Germline	Chr19:38457546	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Reviewed By Expert Panel	CA024313	rs_193922772	9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002222024 RCV002222025 RCV002222026 RCV002477305
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Acute rhabdomyolysis	Reviewed By Expert Panel	CA024494	rs_193922781	17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy	Reviewed By Expert Panel	CA024693	rs_193922803	14 SubmittersRCV000119682 RCV000578408 RCV000803469 RCV000763425 RCV001787994 RCV001787999 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV002281944 RCV004017408 RCV004813060
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024738	rs_193922809	16 SubmittersRCV000119695 RCV001127650 RCV001236218 RCV001788008 RCV001788010 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV002492410 RCV004019662 RCV004556734
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024744	rs_193922810	7 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	SNV Germline	Chr1:201060816	Likely pathogenic	Condition: not provided Malignant hyperthermia of anesthesia Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	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	Condition: not provided Multi-minicore disease and atypical periodic paralysis Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease RYR1-related disorder Hydrops fetalis Central core myopathy Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	SNV Germline	ChrX:150659665	Pathogenic/Likely pathogenic	Severe X-linked myotubular myopathy Condition: not provided Spastic paraplegia Centronuclear myopathy Congenital myopathy with fiber type disproportion Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA271769	rs_587783772	9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	SNV Germline	Chr19:38459253	Conflicting classifications of pathogenicity	Myopathy, RYR1-associated not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr19:38466176	Conflicting classifications of pathogenicity	Congenital myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA024378	rs_150993059	8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV001565509 RCV002265625
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Condition: not provided not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease See cases King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	19 SubmittersRCV000148819 RCV000534955 RCV000520385 RCV000501380 RCV000855482 RCV001198313 RCV003998172 RCV004017422 RCV004797783 RCV004767091 RCV005406848
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023934	rs_377178986	14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)	SNV Germline	Chr2:178622684	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Dilated cardiomyopathy 1G Congenital myopathy	Criteria Provided Conflicting Classifications	CA185817	rs_727505350	7 SubmittersRCV000156906 RCV000620569 RCV000705371 RCV000725890 RCV004764904 RCV005625342
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	SNV Germline	Chr14:23424876	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy 1 Condition: not provided Myopathy Hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Cardiomyopathy Cardiovascular phenotype 6 conditions Myosin storage myopathy MYH7-related skeletal myopathy Dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy	Criteria Provided Multiple Submitters No Conflicts	CA012656	rs_2754158	21 SubmittersRCV000201448 RCV000225738 RCV000415053 RCV000457606 RCV001198295 RCV001524491 RCV002453490 RCV002505152 RCV003333032 RCV003333030 RCV003333029 RCV003333031 RCV003448270 RCV004771464
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	SNV Germline	Chr14:23426810	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA011560	rs_727503263	13 SubmittersRCV000461116 RCV000620591 RCV000770495 RCV000766426 RCV001197245 RCV001258093
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:154172927	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion TPM3-related myopathy	Criteria Provided Conflicting Classifications	CA235008	rs_727504181	3 SubmittersRCV000154017 RCV002516101 RCV002514966
NC_000001.11:g.229432790C>G	SNV Germline	Chr1:229432790	Conflicting classifications of pathogenicity	Condition: not provided Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Conflicting Classifications	CA233443	rs_727503798	5 SubmittersRCV000152747 RCV002514940 RCV005867941
NM_000540.3(RYR1):c.12283-7C>T	SNV Germline	Chr19:38561106	Conflicting classifications of pathogenicity	not specified 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 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	10 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 6 conditions Congenital myopathy	Criteria Provided Conflicting Classifications	CA200105	rs_200513156	15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV004539593 RCV005396515 RCV005625363
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	SNV Germline	Chr19:38505910	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024923	rs_144777676	10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	SNV Germline	Chr19:38561329	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023986	rs_772494345	4 SubmittersRCV000721273 RCV002492793 RCV003591696
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)	SNV Germline	Chr19:38565378	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	5 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	SNV Germline	Chr1:201091983	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Long QT syndrome Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 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	Criteria Provided Conflicting Classifications	CA004075	rs_141204958	13 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 myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)	SNV Germline	Chr2:178722367	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided Congenital myopathy	Criteria Provided Conflicting Classifications	CA312007	rs_759713604	7 SubmittersRCV000185409 RCV000275340 RCV000304195 RCV000329111 RCV000363577 RCV000458691 RCV000365247 RCV001798659 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 dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA347374	rs_774843953	8 SubmittersRCV000193137 RCV000518351 RCV000701519 RCV003313944
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	SNV Germline	Chr7:143341995	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive 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_206926.2(SELENON):c.313G>A (p.Ala105Thr)	SNV Germline	Chr1:25805153	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA207149	rs_201692549	10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr21:43060481	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided not specified Connective tissue disorder 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 RCV001526851 RCV002277461 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 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy not specified RYR1-related disorder Condition: not provided Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Exercise-induced myalgia Myalgia Elevated circulating creatine kinase concentration Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195
NM_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	Inborn genetic diseases Condition: not provided Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy	Reviewed By Expert Panel	CA053108	rs_111436401	11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	SNV Germline	Chr17:63941922	Likely pathogenic	Congenital myasthenic syndrome Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16	Criteria Provided Multiple Submitters No Conflicts	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 Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Malignant tumor of esophagus Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA4537173	rs_118066140	13 SubmittersRCV000239241 RCV000404319 RCV000513813 RCV000660618 RCV001086594 RCV005890980 RCV005890979
NM_000083.3(CLCN1):c.2284+5C>T	SNV Germline	Chr7:143346256	Conflicting classifications of pathogenicity	not specified Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537608	rs_74824159	11 SubmittersRCV000238941 RCV000545584 RCV000407412 RCV001199130 RCV001705317
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)	SNV Germline	Chr19:38534781	Conflicting classifications of pathogenicity	Malignant hypothermia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA056720	rs_146361173	9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911
NM_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 Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion Actin accumulation myopathy Alpha-actinopathy	Reviewed By Expert Panel	CA1442883	rs_371410845	4 SubmittersRCV000261100 RCV001814140 RCV002519066 RCV004813085
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)	SNV Germline	Chr1:25809150	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Multiple Submitters No Conflicts	CA696660	rs_199564797	9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311
NM_206926.2(SELENON):c.988C>T (p.Gln330Ter)	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 recessive form Congenital myotonia, autosomal dominant 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_206926.2(SELENON):c.1613C>A (p.Thr538Asn)	SNV Germline	Chr1:25815660	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA696975	rs_183272965	7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)	SNV Germline	Chr21:46132074	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Congenital myopathy	Criteria Provided Conflicting Classifications	CA10072935	rs_373813975	6 SubmittersRCV000377482 RCV000400296 RCV001087885 RCV005621930
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)	SNV Germline	Chr7:143332864	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy not specified	Criteria Provided Conflicting Classifications	CA4537336	rs_201919331	7 SubmittersRCV000513242 RCV001084293 RCV001161643 RCV004701391
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	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA083665	rs_146696748	7 SubmittersRCV000362920 RCV000815102 RCV003454872 RCV003458395 RCV003454873 RCV005401415
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	SNV Germline	Chr1:201043447	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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083619	rs_200848930	5 SubmittersRCV000692277 RCV000711148 RCV005003622 RCV005401416
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)	SNV Germline	Chr1:201062018	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA10608734	rs_146497999	7 SubmittersRCV000290207 RCV002221220 RCV003454890 RCV003458406 RCV004021408 RCV005222879
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	SNV Germline	Chr1:201075498	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078677	rs_760246258	8 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356 RCV005008267 RCV005402900
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)	SNV Germline	Chr1:201075558	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 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 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078649	rs_147888089	5 SubmittersRCV000265931 RCV001295829 RCV005008268 RCV005003624 RCV006547966
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 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	CA078549	rs_377459546	6 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269 RCV006547967
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	SNV Germline	Chr1:201089269	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 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 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA084030	rs_138205421	7 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003454912 RCV003458419 RCV005008270
NM_000069.3(CACNA1S):c.398+3G>A	SNV Germline	Chr1:201093879	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083015	rs_764710968	6 SubmittersRCV000651213 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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided not specified CACNA1S-related disorder 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	CA079447	rs_140453525	7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073 RCV005008266 RCV005402899
NM_000069.3(CACNA1S):c.1949-7C>T	SNV Germline	Chr1:201074627	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 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 CACNA1S-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA078725	rs_368564115	6 SubmittersRCV000400031 RCV000545576 RCV003445866 RCV003445867 RCV003445868 RCV003940101 RCV004725150
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	SNV Germline	Chr1:229433008	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442937	rs_143948837	2 SubmittersRCV000289010 RCV000325221 RCV000378765
NM_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 not specified Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided Dystonia, early-onset, and/or spastic paraplegia	Criteria Provided Conflicting Classifications	CA4537594	rs_149316679	6 SubmittersRCV000279484 RCV000518175 RCV000638263 RCV001712348 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 dominant form Congenital myotonia, autosomal recessive 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	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537730	rs_775384507	3 SubmittersRCV000402752 RCV000991821 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 recessive form Congenital myotonia, autosomal dominant 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 recessive form Congenital myotonia, autosomal dominant 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 Arthrogryposis, distal, type 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA5047244	rs_763429317	4 SubmittersRCV000278603 RCV000607973 RCV000875847 RCV001288083
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	SNV Germline	Chr7:143316298	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy not specified Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Conflicting Classifications	CA4536816	rs_146160029	10 SubmittersRCV000361953 RCV000442751 RCV000711240 RCV001257057 RCV004530446
NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	SNV Germline	Chr7:143316368	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant 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 Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4536913	rs_756353660	5 SubmittersRCV000263405 RCV000536073 RCV001571296 RCV004022040
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)	SNV Germline	Chr7:143342417	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Conflicting Classifications	CA4537498	rs_140205115	7 SubmittersRCV000381389 RCV000710099 RCV001086283 RCV004544687
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 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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078019	rs_148770452	5 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV005004145 RCV006549985
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SNV Unknown	Chr17:63964587	Conflicting classifications of pathogenicity	Myotonia Muscle weakness Batten-Turner congenital myopathy Pain EMG: myotonic discharges Distal sensory impairment Muscle weakness Limb pain 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 Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	SNV Germline	Chr19:38499718	Pathogenic/Likely pathogenic	Delayed gross motor development Congenital contracture Short stature Proximal amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043555	rs_1057518940	3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254
NM_152263.4(TPM3):c.831C>T (p.His277=)	SNV Germline	Chr1:154169328	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA1125504	rs_781032589	2 SubmittersRCV000415940 RCV001418356
NM_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 CACNA1S-related disorder 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	CA16603474	rs_892742196	6 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060 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 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083451	rs_765581827	6 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003458436 RCV003456073 RCV003456074 RCV004711096
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 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082876	rs_774300377	6 SubmittersRCV000420857 RCV001063783 RCV004000504 RCV005004158 RCV005791857
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079088	rs_369192794	7 SubmittersRCV000425186 RCV001861555 RCV004000425 RCV005004156 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083723	rs_201310235	5 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157 RCV006550053
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 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)	SNV Germline	Chr19:38504269	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA071182	rs_138325444	7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	SNV Germline	Chr1:201041534	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083722	rs_550371466	10 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066 RCV004751528 RCV005010330 RCV005239013 RCV006550070 RCV005355786
NM_000069.3(CACNA1S):c.1948+1G>A	SNV Germline	Chr1:201075494	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078688	rs_745712829	6 SubmittersRCV000455181 RCV000782247 RCV001218682 RCV006458363 RCV004000600
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 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 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16617038	rs_970352258	7 SubmittersRCV000481252 RCV001851232 RCV002481522 RCV003449232 RCV003449231 RCV003458442 RCV003449233
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)	SNV Germline	Chr1:201073607	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078805	rs_147112322	9 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025 RCV004751562 RCV005010393
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	Condition: not provided Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6516571	rs_142755965	2 SubmittersRCV000481172 RCV001044442
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)	SNV Germline	Chr12:41025270	Conflicting classifications of pathogenicity	Condition: not provided Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6517196	rs_138121813	2 SubmittersRCV000487172 RCV001205215
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)	SNV Germline	Chr17:46171276	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Koolen-de Vries syndrome not specified Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA8618938	rs_149830411	8 SubmittersRCV000486096 RCV000623046 RCV000678306 RCV002248704 RCV005625630
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 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078266	rs_150590855	9 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987 RCV005401467 RCV005010400
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	SNV Germline	Chr12:57244222	Pathogenic/Likely pathogenic	Condition: not provided Bailey-Bloch congenital myopathy Inborn genetic diseases Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA6646959	rs_371720347	7 SubmittersRCV000487670 RCV000677630 RCV001267514 RCV005899688
NM_145064.3(STAC3):c.432+4A>T	SNV Germline	Chr12:57248702	Conflicting classifications of pathogenicity	Condition: not provided Bailey-Bloch congenital myopathy	Criteria Provided Conflicting Classifications	CA6647150	rs_751033943	5 SubmittersRCV000487958 RCV000677631
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA405643333	rs_113460156	5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	SNV Germline	Chr1:201074521	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 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	Criteria Provided Conflicting Classifications	CA078757	rs_141031133	6 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV004003478 RCV005004190
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)	SNV Germline	Chr12:40959179	Conflicting classifications of pathogenicity	not specified Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6516926	rs_768838928	2 SubmittersRCV000503918 RCV000871125
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)	SNV Germline	Chr16:724716	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789446	rs_752077571	3 SubmittersRCV000504010 RCV000540447 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	Multiminicore myopathy Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA065302	rs_146407179	8 SubmittersRCV000509349 RCV001223356 RCV001703183 RCV004003564
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	SNV Germline	Chr1:201089385	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 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	CA083997	rs_35534614	8 SubmittersRCV000514356 RCV001081811 RCV003517213 RCV003935341 RCV005004204
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 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Intellectual disability	Criteria Provided Conflicting Classifications	CA079631	rs_142102094	7 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)	SNV Germline	Chr1:201078006	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases 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 Conflicting Classifications	CA078265	rs_532351874	7 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496 RCV005004207 RCV006550272
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)	SNV Germline	Chr7:143346201	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications	CA4537596	rs_144612641	5 SubmittersRCV000516763 RCV000552273 RCV001165266
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)	SNV Germline	Chr16:724186	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA7789312	rs_780197880	2 SubmittersRCV000516842 RCV000650516
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)	SNV Germline	Chr16:725464	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores CCDC78-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7789632	rs_145274257	5 SubmittersRCV000518150 RCV000559318 RCV003915450 RCV004601192 RCV005000073
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)	SNV Germline	Chr1:154173124	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA342584351	rs_1553249076	2 SubmittersRCV000522047 RCV001857960
NM_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 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 Conflicting Classifications	CA078972	rs_760674518	5 SubmittersRCV000519296 RCV001225189 RCV005010484 RCV006550292
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 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078097	rs_370861322	5 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003458449 RCV003449493 RCV005010481
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	SNV Germline	Chr7:143351862	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form not specified	Criteria Provided Conflicting Classifications	CA4537805	rs_150796358	8 SubmittersRCV000711231 RCV000798907 RCV001161762 RCV003883154 RCV006458458
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Pathogenic	Condition: not provided Inborn genetic diseases RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA073621	rs_776697656	9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Uterine corpus endometrial carcinoma Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA060836	rs_142929172	8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)	SNV Germline	Chr1:154170417	Pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342582852	rs_1553248515	1 SubmittersRCV000524673
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)	SNV Germline	Chr1:201039903	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Condition: not provided 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	CA083898	rs_141556780	5 SubmittersRCV000535113 RCV004586790 RCV005641692 RCV005010524 RCV006550427
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 Malignant hyperthermia, susceptibility to, 5 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 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 Actin accumulation myopathy Congenital myopathy 4A, autosomal dominant 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	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA077944	rs_763360081	5 SubmittersRCV000529687 RCV001584331 RCV005004239 RCV006550419 RCV006342371
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	SNV Germline	Chr1:201058433	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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082633	rs_200366112	5 SubmittersRCV000546815 RCV003487272 RCV005004242 RCV006550423 RCV005791894
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 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078626	rs_149195094	3 SubmittersRCV000532209 RCV005010522 RCV006550421
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	Arthrogryposis, distal, type 1A Congenital myopathy 23 TPM2-related disorder	Criteria Provided Conflicting Classifications	CA5047388	rs_200730708	3 SubmittersRCV000556694 RCV001168543 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.1103G>A (p.Gly368Glu)	SNV Germline	Chr16:723887	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789252	rs_145971446	2 SubmittersRCV000554592 RCV006327111
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789585	rs_370998388	3 SubmittersRCV000537626 RCV003156257 RCV005791893
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SNV Germline	Chr17:63947061	Pathogenic/Likely pathogenic	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 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	SNV Germline	Chr19:38585967	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405692312	rs_1432807966	7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA066855	rs_202225176	3 SubmittersRCV000526099 RCV002483516 RCV003133373
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)	SNV Germline	Chr19:38496276	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA308104063	rs_745432757	2 SubmittersRCV000558724 RCV002506378
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	SNV Germline	Chr19:38444167	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066047	rs_151325948	9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	SNV Germline	Chr9:131506188	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy 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 SubmittersRCV000591710 RCV000819538 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	5 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 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	SNV Germline	Chr19:38517520	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	SNV Germline	Chr1:154176194	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342585012	rs_121964853	1 SubmittersRCV000637290
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)	SNV Germline	Chr1:201043468	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 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA1321791	rs_756066219	4 SubmittersRCV000651212 RCV002530539 RCV005004304 RCV006552618
NM_000069.3(CACNA1S):c.5049-2A>G	SNV Germline	Chr1:201041591	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Condition: not provided not specified 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	CA083706	rs_148989517	6 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308 RCV006552625
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	SNV Germline	Chr1:201044407	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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA083555	rs_183195890	9 SubmittersRCV000651269 RCV002493045 RCV003451581 RCV003451580 RCV003458497 RCV003451582 RCV003953183 RCV004025825 RCV004792337
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	SNV Germline	Chr1:201047600	Conflicting classifications of pathogenicity	Condition: not provided 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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083380	rs_149036408	6 SubmittersRCV000711146 RCV001515531 RCV003451565 RCV003451564 RCV003451566 RCV003458489 RCV005010632
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	SNV Germline	Chr1:201048683	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083251	rs_377474103	8 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV003451556 RCV003456115 RCV003458485 RCV005000459 RCV005004306
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)	SNV Germline	Chr1:201077941	Conflicting classifications of pathogenicity	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	CA078399	rs_200066766	5 SubmittersRCV000651227 RCV004004092 RCV005623352 RCV005004307
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_001378030.1(CCDC78):c.554C>T (p.Thr185Met)	SNV Germline	Chr16:725084	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7789538	rs_142129985	3 SubmittersRCV000650513 RCV003162980 RCV005639172
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)	SNV Germline	Chr19:38517532	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided not specified King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)	SNV Germline	Chr1:201078033	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Inborn genetic diseases 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	CA078252	rs_138364213	8 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV003392506 RCV002536327 RCV004004191 RCV005010641
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA082842	rs_1568507354	3 SubmittersRCV000678325 RCV002493120 RCV003591771
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)	SNV Germline	Chr1:229432347	Conflicting classifications of pathogenicity	Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Conflicting Classifications	CA345148327	rs_1558081797	2 SubmittersRCV000679903 RCV005862515
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405674053	rs_1456276440	6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220
NM_000257.4(MYH7):c.5560-2A>C	SNV Germline	Chr14:23414104	Likely pathogenic	MYH7-related skeletal myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA389034986	rs_1566521710	1 SubmittersRCV000681617 RCV001199131
NM_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 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	CA079656	rs_145039828	5 SubmittersRCV000686554 RCV004004250 RCV002547103 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079482	rs_149658326	6 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV006552712 RCV004783841
NM_000069.3(CACNA1S):c.2361-3C>T	SNV Germline	Chr1:201069604	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 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078961	rs_774194599	4 SubmittersRCV000705596 RCV002499271 RCV003446371 RCV003446373 RCV003446370 RCV003446372
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 Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA507355614	rs_1357186643	2 SubmittersRCV000703165 RCV002499265
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA891844342	rs_1199304403	2 SubmittersRCV000695461 RCV002499246
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)	SNV Germline	Chr19:38460545	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA063399	rs_146754847	7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066054	rs_747718728	8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595
NM_206926.2(SELENON):c.1010G>A (p.Gly337Asp)	SNV Germline	Chr1:25811710	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Conflicting Classifications	CA696769	rs_745886248	7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	SNV Germline	Chr7:143320774	Conflicting classifications of pathogenicity	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Conflicting Classifications	CA4536928	rs_762344462	5 SubmittersRCV000711232 RCV001163064 RCV001405014 RCV004544955
NM_000540.3(RYR1):c.767G>A (p.Arg256His)	SNV Germline	Chr19:38446735	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069967	rs_772767943	7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	SNV Germline	Chr19:38469026	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder not specified Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064845	rs_201174268	9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA405654623	rs_1568484835	4 SubmittersRCV000721586 RCV001036189 RCV002493289
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073057	rs_372702492	5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	SNV Germline	Chr19:38517565	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA074292	rs_544339193	6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA059617	rs_748844266	7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924
NM_003289.4(TPM2):c.269G>A (p.Arg90His)	SNV Germline	Chr9:35685752	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA373368501	rs_1563929454	2 SubmittersRCV000754748 RCV006464139
NM_000069.3(CACNA1S):c.4113+1G>A	SNV Germline	Chr1:201050983	Pathogenic/Likely pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 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 Multiple Submitters No Conflicts	CA344149425	rs_1558056376	5 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433 RCV005012304
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	SNV Germline	Chr1:201053459	Conflicting classifications of pathogenicity	Condition: not provided 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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA082845	rs_201627041	7 SubmittersRCV000782249 RCV001377927 RCV003453617 RCV003453618 RCV005004416
NM_000069.3(CACNA1S):c.2491-1G>T	SNV Germline	Chr1:201069197	Likely pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	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	Condition: not provided 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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078912	rs_770073633	8 SubmittersRCV000782246 RCV001869163 RCV002493430 RCV003453616 RCV003456143 RCV003456144 RCV003458516
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)	SNV Germline	Chr1:154176221	Pathogenic/Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA342585072	rs_1571418855	2 SubmittersRCV000808390 RCV005860154
NM_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 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	CA083724	rs_201310235	6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV004001641 RCV005004433
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083643	rs_141618437	5 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370 RCV006545558
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)	SNV Germline	Chr1:201044339	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	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 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	CA083561	rs_202120583	3 SubmittersRCV000797715 RCV003517268 RCV005012324
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 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	CA083476	rs_757433005	4 SubmittersRCV000794541 RCV000994222 RCV005012319 RCV006552847
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 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083135	rs_371849585	6 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350 RCV006545525
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 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 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	CA079453	rs_747618077	5 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429 RCV006552852
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 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	Criteria Provided Conflicting Classifications	CA079119	rs_201205904	5 SubmittersRCV000800242 RCV003517269 RCV003489884 RCV005004432
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)	SNV Germline	Chr1:201070336	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 CACNA1S-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078922	rs_771865391	7 SubmittersRCV000803519 RCV001585731 RCV003453673 RCV003453675 RCV003458533 RCV003453674 RCV003908099 RCV004702433 RCV004601284
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)	SNV Germline	Chr1:201085002	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA078030	rs_112236248	4 SubmittersRCV000807536 RCV003517271 RCV005004438 RCV005641814
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 dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA4537072	rs_772027125	4 SubmittersRCV000822037 RCV001836901 RCV006257323
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)	SNV Germline	Chr7:143330880	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive 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	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405634883	rs_1440262870	6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735
NM_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_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	SNV Germline	Chr1:229432063	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Actin accumulation myopathy Condition: not provided Congenital myopathy 2b, severe infantile, autosomal recessive Congenital myopathy 2c, severe infantile, autosomal dominant Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146753	rs_1057521117	4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306
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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA066333	rs_201094741	6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	SNV Germline	Chr1:229432016	Conflicting classifications of pathogenicity	Actin accumulation myopathy Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA1442804	rs_141030526	3 SubmittersRCV000877200 RCV001099824 RCV001099825 RCV001545990
NM_001843.4(CNTN1):c.633C>T (p.Cys211=)	SNV Germline	Chr12:40929932	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA6516660	rs_746981200	2 SubmittersRCV000878880 RCV006265400
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 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	CA422686681	rs_759934490	6 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003458569 RCV003413713 RCV003454932
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)	SNV Germline	Chr1:201083241	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 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	CA078127	rs_146400205	3 SubmittersRCV000926262 RCV004003214 RCV005004466
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	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 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.2839G>A (p.Val947Ile)	SNV Germline	Chr1:201065852	Conflicting classifications of pathogenicity	Condition: not provided 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 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079317	rs_76460090	6 SubmittersRCV000994228 RCV003455017 RCV003455018 RCV002550662 RCV003455019 RCV003458580 RCV005004475
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)	SNV Germline	Chr1:201075539	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078661	rs_144590408	5 SubmittersRCV001035245 RCV004004424 RCV005004476 RCV005532810
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr1:201077907	Conflicting classifications of pathogenicity	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 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078427	rs_751671175	6 SubmittersRCV001101909 RCV001248214 RCV003458582 RCV003455023 RCV003455024 RCV005012426 RCV005630851
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)	SNV Germline	Chr1:201089400	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 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	CA083991	rs_768015104	8 SubmittersRCV000996098 RCV003455032 RCV003455033 RCV003458583 RCV003456172 RCV003769351 RCV005012431
NM_000540.3(RYR1):c.668A>G (p.His223Arg)	SNV Germline	Chr19:38446508	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068570	rs_766836202	6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)	SNV Germline	Chr1:229432120	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA345147089	rs_1558081664	3 SubmittersRCV000995477 RCV001869389 RCV004587005
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062775	rs_776252106	6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475
NM_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	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA083466	rs_774256022	4 SubmittersRCV001038054 RCV004004718 RCV005004495 RCV006279297
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)	SNV Germline	Chr1:201047182	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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA35996167	rs_891244994	4 SubmittersRCV001065639 RCV004000149 RCV005012521
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	SNV Germline	Chr1:201077916	Pathogenic/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 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083998	rs_186538122	4 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455302 RCV003455303 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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083990	rs_555596737	3 SubmittersRCV001071805 RCV004000208 RCV005012532
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)	SNV Germline	Chr1:201112197	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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA36018215	rs_977298165	3 SubmittersRCV001054284 RCV003455242 RCV003455243 RCV003456182 RCV003458606 RCV005005011
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)	SNV Germline	Chr1:25805219	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA696513	rs_778603129	5 SubmittersRCV001039378 RCV001732020
NM_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 Congenital myopathy 20 not specified	Criteria Provided Conflicting Classifications	CA7457630	rs_375998723	3 SubmittersRCV001063110 RCV003492216 RCV004030481
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_001378030.1(CCDC78):c.155C>T (p.Ala52Val)	SNV Germline	Chr16:725991	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394105485	rs_1432121366	2 SubmittersRCV001035560 RCV005791979
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)	SNV Germline	Chr17:63945465	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA400617905	rs_1181083611	4 SubmittersRCV001065707 RCV003227512 RCV002512136 RCV004792710
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA405695616	rs_1305971341	5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)	SNV Germline	Chr19:38466117	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064173	rs_143179371	6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)	SNV Germline	Chr19:38499671	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA069098	rs_144526634	5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	SNV Germline	Chr19:38505340	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA071860	rs_767805554	6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)	SNV Germline	Chr19:38512483	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073657	rs_770942162	4 SubmittersRCV001057839 RCV002482022 RCV004000093
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061315	rs_193922875	6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA054848	rs_374325589	4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962
NM_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 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083530	rs_372436488	8 SubmittersRCV001092292 RCV001437600 RCV004000216 RCV004609622 RCV005012549
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)	SNV Germline	Chr1:201065906	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	Criteria Provided Conflicting Classifications	CA079290	rs_146903750	3 SubmittersRCV002995961 RCV005010857 RCV005401995
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)	SNV Germline	Chr19:38519244	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA052265	rs_538500669	6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773
NM_152263.4(TPM3):c.*5640C>T	SNV Germline	Chr1:154162297	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA30762609	rs_564296987	1 SubmittersRCV001097896 RCV001097897
NM_152263.4(TPM3):c.*1077A>C	SNV Germline	Chr1:154166860	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA30765532	rs_557217738	1 SubmittersRCV001098594 RCV001096834
NM_152263.4(TPM3):c.*157C>T	SNV Germline	Chr1:154167780	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA30766147	rs_144482403	1 SubmittersRCV001100497 RCV001100498
NM_152263.4(TPM3):c.249G>A (p.Glu83=)	SNV Germline	Chr1:154176243	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA1125746	rs_149765446	2 SubmittersRCV001098780 RCV001098779 RCV002067751
NM_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 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079050	rs_764821044	5 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	SNV Germline	Chr1:201077110	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078494	rs_373525085	7 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV005792010
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	5 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 Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA423754785	rs_1659932688	2 SubmittersRCV001096303 RCV001101722 RCV001101723
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	SNV Germline	Chr1:229432575	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy	Criteria Provided Conflicting Classifications	CA1442882	rs_371410845	2 SubmittersRCV001098139 RCV001098140 RCV001098141
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)	SNV Germline	Chr7:143339294	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537374	rs_781587827	2 SubmittersRCV001161644 RCV003769774
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)	SNV Germline	Chr7:143342407	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4537497	rs_763850295	4 SubmittersRCV001163171 RCV001358944 RCV003323800 RCV004800707
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)	SNV Germline	Chr7:143345607	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537527	rs_200385034	2 SubmittersRCV001163174 RCV003769787
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe)	SNV Germline	Chr7:143351820	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537793	rs_769053787	3 SubmittersRCV001161761 RCV005225247 RCV005005057
NM_000083.3(CLCN1):c.697-9C>A	SNV Germline	Chr7:143323300	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant 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 recessive form Congenital myotonia, autosomal dominant 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/Likely pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345147895	rs_2527437739	2 SubmittersRCV003228209 RCV006474073
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)	SNV Unknown	Chr14:23425789	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA389048940	rs_1247313340	1 SubmittersRCV001198111
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	SNV Germline	Chr14:23426834	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA389049378	rs_397516127	5 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156 RCV005866844
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)	SNV Germline	Chr1:201061398	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079556	rs_562504992	4 SubmittersRCV001222445 RCV004010745 RCV004601406 RCV005012632
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)	SNV Germline	Chr12:109814571	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Condition: not provided Congenital myopathy	Criteria Provided Conflicting Classifications	CA6780589	rs_777647151	3 SubmittersRCV001214255 RCV001587231 RCV005622077
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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069044	rs_138617219	3 SubmittersRCV001217935 RCV002504268 RCV005402988
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)	SNV Germline	Chr1:201070357	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078915	rs_777247285	3 SubmittersRCV001202456 RCV005005069 RCV006545934
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_001843.4(CNTN1):c.2326C>T (p.Pro776Ser)	SNV Germline	Chr12:41016823	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6517108	rs_199833589	2 SubmittersRCV001231411 RCV005802076
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 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078278	rs_140246559	6 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	SNV Germline	Chr1:201069596	Conflicting classifications of pathogenicity	Muscular atrophy skeletal contractures Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA344108070	rs_1157720606	6 SubmittersRCV001254711 RCV003152617 RCV003449816 RCV003145495 RCV003449815 RCV003456486
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	SNV Germline	Chr9:35683232	Pathogenic/Likely pathogenic	Arthrogryposis, distal, type 1A Congenital myopathy 23 Condition: not provided TPM2-related myopathy Arthrogryposis, distal, type 1A Congenital myopathy 23	Criteria Provided Multiple Submitters No Conflicts	CA373363229	rs_1824676022	8 SubmittersRCV001254895 RCV001573796 RCV003389253 RCV005645238 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 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 Conflicting Classifications	CA079080	rs_200334886	3 SubmittersRCV001307461 RCV005005154 RCV006548081
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)	SNV Germline	Chr1:201070387	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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA344109538	rs_1313818230	5 SubmittersRCV001308957 RCV002499591 RCV003458662 RCV003449883 RCV003449884 RCV003449882 RCV005630916
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)	SNV Germline	Chr1:201078032	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided 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 Conflicting Classifications	CA078255	rs_553739117	4 SubmittersRCV001297932 RCV002285472 RCV005012736 RCV006548062
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)	SNV Germline	Chr16:726037	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789747	rs_144624081	2 SubmittersRCV001298343 RCV005792070
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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA079098	rs_376899610	5 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446706 RCV003446705 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 RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA308123278	rs_927675372	6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062851	rs_565825739	7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	SNV Germline	Chr1:201066897	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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079154	rs_553593355	4 SubmittersRCV001343372 RCV003449965 RCV003449966 RCV003458673 RCV003449967 RCV005005190 RCV006347713
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 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	CA078628	rs_776996468	3 SubmittersRCV005005858 RCV001347797 RCV004808022
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu)	SNV Germline	Chr16:725416	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789623	rs_144640928	2 SubmittersRCV001338305 RCV005792093
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 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083203	rs_372383822	5 SubmittersRCV001372444 RCV002548661 RCV005005894 RCV005912560 RCV006548232
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 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078873	rs_752513328	5 SubmittersRCV001372783 RCV003517329 RCV003169919 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 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	CA084021	rs_577022740	4 SubmittersRCV001367207 RCV005005214 RCV004006807
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln)	SNV Germline	Chr16:724957	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789503	rs_763959604	2 SubmittersRCV001359517 RCV005792108
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)	SNV Germline	Chr19:38463527	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308074291	rs_919322708	5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA053217	rs_373702420	4 SubmittersRCV001370548 RCV002504621 RCV004006823
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	SNV Germline	Chr17:63971725	Pathogenic	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	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 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083175	rs_574154912	4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747
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 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	CA344146480	rs_1224786667	6 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV004009035 RCV005006037
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)	SNV Germline	Chr17:63971192	Conflicting classifications of pathogenicity	SCN4A-related non-dystrophic myotonia Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Paramyotonia congenita of Von Eulenburg 7 conditions Congenital myasthenic syndrome 16 Congenital myopathy 22A, classic Congenital myopathy 22B, severe fetal	Criteria Provided Conflicting Classifications	CA8710086	rs_764718003	7 SubmittersRCV002267640 RCV002464491 RCV003227995 RCV003227994 RCV005023264 RCV006249395
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083346	rs_780785403	5 SubmittersRCV002047777 RCV005008399 RCV005308678 RCV006550844 RCV005639386
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 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	CA079286	rs_138708497	4 SubmittersRCV001877178 RCV002551094 RCV005005323 RCV006550591
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	SNV Germline	Chr19:38496923	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA068817	rs_761154999	4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346
NM_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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082794	rs_775009783	6 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644 RCV006550648
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Pathogenic	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405683232	rs_1457662393	4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)	SNV Germline	Chr1:201076928	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 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078581	rs_377461013	4 SubmittersRCV002029875 RCV005006093 RCV005241469
NM_000540.3(RYR1):c.947G>A (p.Arg316His)	SNV Germline	Chr19:38448501	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome not specified	Criteria Provided Conflicting Classifications	CA073714	rs_193922761	5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051
NM_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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	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 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083801	rs_200434921	4 SubmittersRCV002038246 RCV002486665 RCV003458818 RCV003456271 RCV003456272 RCV003453957
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	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 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079319	rs_550479246	4 SubmittersRCV001957912 RCV005006273 RCV006550735 RCV005432862
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	SNV Germline	Chr1:154191975	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342587508	rs_2148295444	1 SubmittersRCV002014040
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)	SNV Germline	Chr1:201089451	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083969	rs_767790285	5 SubmittersRCV002001260 RCV004011066 RCV005535221 RCV005002755
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789271	rs_754906673	3 SubmittersRCV002051003 RCV005437379 RCV006327304
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 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 4B, autosomal recessive Congenital myopathy with fiber type disproportion Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA1125711	rs_769493959	2 SubmittersRCV002021590 RCV004587292
NM_152263.4(TPM3):c.118-12G>A	SNV Germline	Chr1:154191323	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2573051308	rs_2526056353	4 SubmittersRCV002285529 RCV005412365 RCV005868551
NM_000069.3(CACNA1S):c.1619+16G>A	SNV Germline	Chr1:201077863	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	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	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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083621	rs_576536458	6 SubmittersRCV002176965 RCV003149015 RCV004011197 RCV005002793
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 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	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 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 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078529	rs_773440873	6 SubmittersRCV002288338 RCV003325600 RCV003101662 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342585070	rs_199474713	2 SubmittersRCV003058660 RCV006454326
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)	SNV Germline	Chr1:201060811	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 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	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	Malignant hyperthermia, susceptibility to, 5 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	Criteria Provided Conflicting Classifications	CA079149	rs_573597311	4 SubmittersRCV002647291 RCV004009491 RCV005002970
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)	SNV Germline	Chr1:201062017	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079469	rs_369941827	4 SubmittersRCV002637771 RCV005011075 RCV005623503 RCV006546410
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)	SNV Germline	Chr1:201061410	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1321809	rs_1473668614	6 SubmittersRCV002628591 RCV003491260 RCV004009498 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	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078582	rs_147382463	4 SubmittersRCV003104780 RCV004725634 RCV005011206 RCV006546435
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)	SNV Germline	Chr1:201047564	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	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	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	Criteria Provided Conflicting Classifications	CA079456	rs_778128095	3 SubmittersRCV002572843 RCV005008622 RCV006546021
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)	SNV Germline	Chr2:151609977	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Congenital myopathy Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348777384	rs_2097887468	4 SubmittersRCV002705678 RCV004571212 RCV005626683 RCV005254127
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 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA084002	rs_779029870	5 SubmittersRCV002727016 RCV004007566 RCV005008721 RCV005639432
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 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	CA344137438	rs_1313984683	4 SubmittersRCV002886044 RCV004066004 RCV005008781 RCV006546144
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 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	Criteria Provided Conflicting Classifications	CA078925	rs_566562378	4 SubmittersRCV002895751 RCV005002898 RCV004750783 RCV006546153
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 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078650	rs_150646872	6 SubmittersRCV002882236 RCV004007657 RCV003409948 RCV005008775 RCV005628958
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.724C>T (p.Pro242Ser)	SNV Germline	Chr1:201089434	Conflicting classifications of pathogenicity	Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083975	rs_376595247	3 SubmittersRCV002763370 RCV005011127 RCV006560872
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	Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7558712	rs_773401224	4 SubmittersRCV003141472 RCV005099364 RCV005622220 RCV006307342
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 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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344158674	rs_1420388292	4 SubmittersRCV003217186 RCV003779707 RCV004009670 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	Pathogenic/Likely pathogenic	Congenital myopathy Primary dilated cardiomyopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146596	rs_1558081624	2 SubmittersRCV003333909 RCV003333908 RCV005871136
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	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Alpha-actinopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345151024	rs_367543049	3 SubmittersRCV003333931 RCV006548521 RCV006249401
NM_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	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA144009028	rs_938886650	2 SubmittersRCV003447798 RCV005645480
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	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	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	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	CA35992730	rs_148724065	4 SubmittersRCV003789322 RCV004005977 RCV005003711
NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)	SNV Germline	Chr1:201112216	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344157756	rs_1553254275	2 SubmittersRCV003787594 RCV006264146
NM_000069.3(CACNA1S):c.5049-12C>G	SNV Germline	Chr1:201041601	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	CA1219569652	rs_1660213551	3 SubmittersRCV003792706 RCV004006007 RCV005003713
NM_152263.4(TPM3):c.243+1G>A	SNV Germline	Chr1:154191185	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342586906	rs_2526055328	1 SubmittersRCV003792009
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)	SNV Germline	Chr1:154191292	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342587281	rs_2148294647	1 SubmittersRCV003802400
NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)	SNV Germline	Chr1:201047165	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344141866	rs_1351956022	2 SubmittersRCV003817944 RCV006264156
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 Inborn genetic diseases Condition: not provided 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	CA083031	rs_146158332	5 SubmittersRCV003818041 RCV005537694 RCV004721229 RCV005013201 RCV006548909
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	Congenital myopathy 4A, autosomal dominant Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy	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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004805727 RCV005006570

SNV
Germline

Chr1:25800231

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253168

rs_121908184

8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747

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

SNV
Germline

Chr1:25809753

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223589

rs_121908188

28 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014

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

SNV
Germline

Chr17:63941508

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117840

rs_80338792

15 SubmittersRCV000006265 RCV000006264 RCV000479620 RCV000690377 RCV002267601 RCV005016246 RCV005867727 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 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA232703

rs_199474720

4 SubmittersRCV000013260 RCV000128708 RCV000707046

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

SNV
Germline

Chr1:154191925

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA232705

rs_80358248

5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204

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

SNV
Germline

Chr1:154172971

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144541

rs_121964852

10 SubmittersRCV000013263 RCV000128701 RCV000054415 RCV000537032 RCV001420249

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

SNV
Germline

Chr1:154176194

Pathogenic

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

No Assertion Criteria Provided

CA232679

rs_121964853

3 SubmittersRCV000013267 RCV000128697 RCV003151724

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

SNV
Germline

Chr1:154172972

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA232686

rs_121964854

7 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725 RCV004585998

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

SNV
Germline

Chr1:154172972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144544

rs_121964854

15 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000637291 RCV000624745 RCV004585999

NM_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

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

Criteria Provided
Single Submitter

CA232622

rs_137853306

3 SubmittersRCV000013280 RCV000128672 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

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

Reviewed By Expert Panel

CA024311

rs_118192172

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

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

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024784

rs_28933397

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

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

SNV
Germline

Chr19:38443612

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354

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

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035

NM_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
Monogenic diabetes
Condition: not provided
Rabson-Mendenhall syndrome
Bailey-Bloch congenital myopathy
Leprechaunism syndrome

Criteria Provided
Conflicting Classifications

CA124262

rs_1799816

13 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000445519 RCV000515071 RCV001132184 RCV001258250 RCV001132183

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

SNV
Germline

Chr7:143321841

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA258012

rs_80356700

14 SubmittersRCV000019084 RCV000020113 RCV000291823 RCV000627758 RCV003317041 RCV004532391

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

SNV
Germline

Chr7:143339290

Pathogenic

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

Criteria Provided
Single Submitter

CA258018

rs_80356694

3 SubmittersRCV000019089 RCV000020101 RCV001237767

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 recessive form
Congenital myotonia, autosomal dominant 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA258020

rs_80356690

8 SubmittersRCV000019091 RCV000020117 RCV000626584 RCV000690053 RCV000711241 RCV001196224 RCV004528125

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

SNV
Germline

Chr7:143330868

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA258024

rs_80356702

15 SubmittersRCV000019094 RCV000019095 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
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Myopathy
EMG: myopathic abnormalities
Tip-toe gait
Cerebral palsy
Abnormality of the musculature
CLCN1-related disorder
Congenital myotonia, autosomal recessive form
Myotonia levior
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA258028

rs_55960271

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

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

SNV
Germline

Chr7:143320744

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA258030

rs_80356699

4 SubmittersRCV000019100 RCV000020109 RCV001049292 RCV005630706

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
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA004054

rs_28930068

15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159

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

SNV
Germline

Chr1:201077915

Conflicting classifications of pathogenicity

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA004021

rs_80338777

18 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389 RCV006547500

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
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy
Congenital myopathy 2b, severe infantile, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA258136

rs_121909523

6 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV002504811 RCV003151732

NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)

SNV
Germline

Chr1:229431558

Pathogenic

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

Reviewed By Expert Panel

CA258138

rs_121909524

2 SubmittersRCV003151733 RCV005646762

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

SNV
Germline

Chr1:229431830

Pathogenic

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

No Assertion Criteria Provided

CA341495

rs_121909529

3 SubmittersRCV000019951 RCV001028007 RCV003151734

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

SNV
Germline

Chr1:229432134

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341497

rs_121909530

4 SubmittersRCV000019952 RCV001851954 RCV003151735

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

SNV
Germline

Chr1:229431633

Pathogenic

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

Reviewed By Expert Panel

CA341499

rs_121909531

5 SubmittersRCV000019953 RCV002513127 RCV003151736 RCV005252692 RCV004767013

NM_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
Myasthenic syndrome, congenital, 1B, fast-channel
Lethal multiple pterygium syndrome
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
Condition: not provided
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA341539

rs_80356704

9 SubmittersRCV000020102 RCV000638249 RCV000711222 RCV002267607

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

SNV
Germline

Chr7:143330838

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341557

rs_80356701

12 SubmittersRCV000020118 RCV000477848 RCV000483128 RCV002243656 RCV004541011 RCV004562217

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129572

rs_387907072

4 SubmittersRCV000023955 RCV000023956 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
Condition: not provided
7 conditions
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA342800

rs_387907196

24 SubmittersRCV000024369 RCV001092265 RCV000853550 RCV004586024

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

SNV
Germline

Chr19:38519399

Pathogenic

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

Reviewed By Expert Panel

CA023822

rs_367543058

15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216

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

SNV
Germline

Chr19:38451846

Likely pathogenic

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

Criteria Provided
Single Submitter

CA023960

rs_118192117

3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338

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

SNV
Germline

Chr19:38566953

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Single Submitter

CA024049

rs_143849895

2 SubmittersRCV000034927 RCV004808560

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

SNV
Germline

Chr19:38485988

Pathogenic

Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Single Submitter

CA024506

rs_367543055

2 SubmittersRCV000034928 RCV003591635

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

SNV
Germline

Chr1:229432867

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344554

rs_367543049

3 SubmittersRCV000034933 RCV000807360 RCV005234924

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

SNV
Germline

Chr1:229433100

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344557

rs_367543048

3 SubmittersRCV000034934 RCV000693406 RCV001198948

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

SNV
Germline

Chr1:154176220

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Single Submitter

CA232676

rs_199474713

3 SubmittersRCV000034942 RCV000128696

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

SNV
Germline

Chr2:178733826

Conflicting classifications of pathogenicity

not specified
Condition: not provided
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
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Congenital myopathy
Hereditary skeletal muscle disorder

Criteria Provided
Conflicting Classifications

CA211174

rs_72648930

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

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
RYR1-related disorder
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Abnormality of the musculature
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

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

SNV
Germline

Chr19:38584973

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

NM_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

21 SubmittersRCV000074400 RCV001093315 RCV004757959

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

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_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_206926.2(SELENON):c.103G>C (p.Gly35Arg)

SNV
Germline

Chr1:25800333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223578

rs_398124359

10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680

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

SNV
Germline

Chr1:25815599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223586

rs_200128474

10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681

NM_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.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

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

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155

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

SNV
Germline

Chr19:38457546

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024313

rs_193922772

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

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

SNV
Germline

Chr19:38485838

Likely pathogenic

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

Reviewed By Expert Panel

CA024494

rs_193922781

17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238

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

SNV
Germline

Chr19:38499670

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024693

rs_193922803

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

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

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024738

rs_193922809

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

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

SNV
Germline

Chr19:38499984

Likely pathogenic

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

Reviewed By Expert Panel

CA024744

rs_193922810

7 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868

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

SNV
Germline

Chr1:201060816

Likely pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501

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

SNV
Germline

ChrX:150659665

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271769

rs_587783772

9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237

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

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771

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

SNV
Germline

Chr19:38466176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024378

rs_150993059

8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV001565509 RCV002265625

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

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

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

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401

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

SNV
Germline

Chr2:178622684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA185817

rs_727505350

7 SubmittersRCV000156906 RCV000620569 RCV000705371 RCV000725890 RCV004764904 RCV005625342

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

SNV
Germline

Chr14:23424876

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012656

rs_2754158

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

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

SNV
Germline

Chr14:23426810

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011560

rs_727503263

13 SubmittersRCV000461116 RCV000620591 RCV000770495 RCV000766426 RCV001197245 RCV001258093

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

SNV
Germline

Chr1:154172927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA235008

rs_727504181

3 SubmittersRCV000154017 RCV002516101 RCV002514966

NC_000001.11:g.229432790C>G

SNV
Germline

Chr1:229432790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233443

rs_727503798

5 SubmittersRCV000152747 RCV002514940 RCV005867941

NM_000540.3(RYR1):c.12283-7C>T

SNV
Germline

Chr19:38561106

Conflicting classifications of pathogenicity

not specified
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 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

10 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
6 conditions
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA200105

rs_200513156

15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV004539593 RCV005396515 RCV005625363

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

SNV
Germline

Chr19:38505910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024923

rs_144777676

10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358

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

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602

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

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

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

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

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

SNV
Germline

Chr1:201091983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004075

rs_141204958

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

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753

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

SNV
Germline

Chr2:178722367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA312007

rs_759713604

7 SubmittersRCV000185409 RCV000275340 RCV000304195 RCV000329111 RCV000363577 RCV000458691 RCV000365247 RCV001798659 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 dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA347374

rs_774843953

8 SubmittersRCV000193137 RCV000518351 RCV000701519 RCV003313944

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

SNV
Germline

Chr7:143341995

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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_206926.2(SELENON):c.313G>A (p.Ala105Thr)

SNV
Germline

Chr1:25805153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207149

rs_201692549

10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881

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

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

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

SNV
Germline

Chr21:43060481

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
not specified
Connective tissue disorder
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 RCV001526851 RCV002277461 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
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
not specified
RYR1-related disorder
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449

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

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195

NM_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

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

Reviewed By Expert Panel

CA053108

rs_111436401

11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342

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

SNV
Germline

Chr17:63941922

Likely pathogenic

Congenital myasthenic syndrome
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Congenital myasthenic syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

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
Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Malignant tumor of esophagus
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA4537173

rs_118066140

13 SubmittersRCV000239241 RCV000404319 RCV000513813 RCV000660618 RCV001086594 RCV005890980 RCV005890979

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

SNV
Germline

Chr7:143346256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537608

rs_74824159

11 SubmittersRCV000238941 RCV000545584 RCV000407412 RCV001199130 RCV001705317

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

SNV
Germline

Chr19:38534781

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA056720

rs_146361173

9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911

NM_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
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Alpha-actinopathy

Reviewed By Expert Panel

CA1442883

rs_371410845

4 SubmittersRCV000261100 RCV001814140 RCV002519066 RCV004813085

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

SNV
Germline

Chr1:25809150

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA696660

rs_199564797

9 SubmittersRCV000358099 RCV000791286 RCV000800896 RCV003985311

NM_206926.2(SELENON):c.988C>T (p.Gln330Ter)

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 recessive form
Congenital myotonia, autosomal dominant 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_206926.2(SELENON):c.1613C>A (p.Thr538Asn)

SNV
Germline

Chr1:25815660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA696975

rs_183272965

7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033

NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)

SNV
Germline

Chr21:46132074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072935

rs_373813975

6 SubmittersRCV000377482 RCV000400296 RCV001087885 RCV005621930

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

SNV
Germline

Chr7:143332864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537336

rs_201919331

7 SubmittersRCV000513242 RCV001084293 RCV001161643 RCV004701391

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

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083665

rs_146696748

7 SubmittersRCV000362920 RCV000815102 RCV003454872 RCV003458395 RCV003454873 RCV005401415

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

SNV
Germline

Chr1:201043447

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

Criteria Provided
Conflicting Classifications

CA083619

rs_200848930

5 SubmittersRCV000692277 RCV000711148 RCV005003622 RCV005401416

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

SNV
Germline

Chr1:201062018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608734

rs_146497999

7 SubmittersRCV000290207 RCV002221220 RCV003454890 RCV003458406 RCV004021408 RCV005222879

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

SNV
Germline

Chr1:201075498

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078677

rs_760246258

8 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356 RCV005008267 RCV005402900

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

SNV
Germline

Chr1:201075558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078649

rs_147888089

5 SubmittersRCV000265931 RCV001295829 RCV005008268 RCV005003624 RCV006547966

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
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

CA078549

rs_377459546

6 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269 RCV006547967

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

SNV
Germline

Chr1:201089269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA084030

rs_138205421

7 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003454912 RCV003458419 RCV005008270

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

SNV
Germline

Chr1:201093879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083015

rs_764710968

6 SubmittersRCV000651213 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
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
not specified
CACNA1S-related disorder
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

CA079447

rs_140453525

7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073 RCV005008266 RCV005402899

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

SNV
Germline

Chr1:201074627

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 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
CACNA1S-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078725

rs_368564115

6 SubmittersRCV000400031 RCV000545576 RCV003445866 RCV003445867 RCV003445868 RCV003940101 RCV004725150

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

SNV
Germline

Chr1:229433008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442937

rs_143948837

2 SubmittersRCV000289010 RCV000325221 RCV000378765

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

Criteria Provided
Conflicting Classifications

CA4537594

rs_149316679

6 SubmittersRCV000279484 RCV000518175 RCV000638263 RCV001712348 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 dominant form
Congenital myotonia, autosomal recessive 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

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

Criteria Provided
Conflicting Classifications

CA4537730

rs_775384507

3 SubmittersRCV000402752 RCV000991821 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 recessive form
Congenital myotonia, autosomal dominant 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 recessive form
Congenital myotonia, autosomal dominant 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
Arthrogryposis, distal, type 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5047244

rs_763429317

4 SubmittersRCV000278603 RCV000607973 RCV000875847 RCV001288083

NM_000083.3(CLCN1):c.86A>C (p.His29Pro)

SNV
Germline

Chr7:143316298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4536816

rs_146160029

10 SubmittersRCV000361953 RCV000442751 RCV000711240 RCV001257057 RCV004530446

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

SNV
Germline

Chr7:143316368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4536913

rs_756353660

5 SubmittersRCV000263405 RCV000536073 RCV001571296 RCV004022040

NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)

SNV
Germline

Chr7:143342417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537498

rs_140205115

7 SubmittersRCV000381389 RCV000710099 RCV001086283 RCV004544687

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
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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078019

rs_148770452

5 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV005004145 RCV006549985

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

SNV
Unknown

Chr17:63964587

Conflicting classifications of pathogenicity

Myotonia
Muscle weakness
Batten-Turner congenital myopathy
Pain
EMG: myotonic discharges
Distal sensory impairment
Muscle weakness
Limb pain
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
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948

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

SNV
Germline

Chr19:38499718

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043555

rs_1057518940

3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254

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

SNV
Germline

Chr1:154169328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1125504

rs_781032589

2 SubmittersRCV000415940 RCV001418356

NM_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
CACNA1S-related disorder
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

CA16603474

rs_892742196

6 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060 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
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083451

rs_765581827

6 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003458436 RCV003456073 RCV003456074 RCV004711096

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

Criteria Provided
Conflicting Classifications

CA082876

rs_774300377

6 SubmittersRCV000420857 RCV001063783 RCV004000504 RCV005004158 RCV005791857

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

Criteria Provided
Conflicting Classifications

CA079088

rs_369192794

7 SubmittersRCV000425186 RCV001861555 RCV004000425 RCV005004156 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
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083723

rs_201310235

5 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157 RCV006550053

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

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

SNV
Germline

Chr19:38504269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071182

rs_138325444

7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347

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

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

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

SNV
Germline

Chr1:201041534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083722

rs_550371466

10 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066 RCV004751528 RCV005010330 RCV005239013 RCV006550070 RCV005355786

NM_000069.3(CACNA1S):c.1948+1G>A

SNV
Germline

Chr1:201075494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078688

rs_745712829

6 SubmittersRCV000455181 RCV000782247 RCV001218682 RCV006458363 RCV004000600

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

Criteria Provided
Conflicting Classifications

CA16617038

rs_970352258

7 SubmittersRCV000481252 RCV001851232 RCV002481522 RCV003449232 RCV003449231 RCV003458442 RCV003449233

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

SNV
Germline

Chr1:201073607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078805

rs_147112322

9 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025 RCV004751562 RCV005010393

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

Condition: not provided
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6516571

rs_142755965

2 SubmittersRCV000481172 RCV001044442

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

SNV
Germline

Chr12:41025270

Conflicting classifications of pathogenicity

Condition: not provided
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6517196

rs_138121813

2 SubmittersRCV000487172 RCV001205215

NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)

SNV
Germline

Chr17:46171276

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Koolen-de Vries syndrome
not specified
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA8618938

rs_149830411

8 SubmittersRCV000486096 RCV000623046 RCV000678306 RCV002248704 RCV005625630

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

Criteria Provided
Conflicting Classifications

CA078266

rs_150590855

9 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987 RCV005401467 RCV005010400

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

SNV
Germline

Chr12:57244222

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6646959

rs_371720347

7 SubmittersRCV000487670 RCV000677630 RCV001267514 RCV005899688

NM_145064.3(STAC3):c.432+4A>T

SNV
Germline

Chr12:57248702

Conflicting classifications of pathogenicity

Condition: not provided
Bailey-Bloch congenital myopathy

Criteria Provided
Conflicting Classifications

CA6647150

rs_751033943

5 SubmittersRCV000487958 RCV000677631

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

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827

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

SNV
Germline

Chr1:201074521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078757

rs_141031133

6 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV004003478 RCV005004190

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

SNV
Germline

Chr12:40959179

Conflicting classifications of pathogenicity

not specified
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6516926

rs_768838928

2 SubmittersRCV000503918 RCV000871125

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

SNV
Germline

Chr16:724716

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7789446

rs_752077571

3 SubmittersRCV000504010 RCV000540447 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

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

Criteria Provided
Conflicting Classifications

CA065302

rs_146407179

8 SubmittersRCV000509349 RCV001223356 RCV001703183 RCV004003564

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

SNV
Germline

Chr1:201089385

Conflicting classifications of pathogenicity

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

CA083997

rs_35534614

8 SubmittersRCV000514356 RCV001081811 RCV003517213 RCV003935341 RCV005004204

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
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Intellectual disability

Criteria Provided
Conflicting Classifications

CA079631

rs_142102094

7 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655

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

SNV
Germline

Chr1:201078006

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
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
Conflicting Classifications

CA078265

rs_532351874

7 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496 RCV005004207 RCV006550272

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

SNV
Germline

Chr7:143346201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537596

rs_144612641

5 SubmittersRCV000516763 RCV000552273 RCV001165266

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

SNV
Germline

Chr16:724186

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA7789312

rs_780197880

2 SubmittersRCV000516842 RCV000650516

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

SNV
Germline

Chr16:725464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7789632

rs_145274257

5 SubmittersRCV000518150 RCV000559318 RCV003915450 RCV004601192 RCV005000073

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

SNV
Germline

Chr1:154173124

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342584351

rs_1553249076

2 SubmittersRCV000522047 RCV001857960

NM_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
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
Conflicting Classifications

CA078972

rs_760674518

5 SubmittersRCV000519296 RCV001225189 RCV005010484 RCV006550292

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

Criteria Provided
Conflicting Classifications

CA078097

rs_370861322

5 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003458449 RCV003449493 RCV005010481

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

SNV
Germline

Chr7:143351862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537805

rs_150796358

8 SubmittersRCV000711231 RCV000798907 RCV001161762 RCV003883154 RCV006458458

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

SNV
Germline

Chr19:38512484

Pathogenic

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

Reviewed By Expert Panel

CA073621

rs_776697656

9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833

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

SNV
Germline

Chr19:38573308

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060836

rs_142929172

8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280

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

SNV
Germline

Chr1:154170417

Pathogenic

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

Criteria Provided
Single Submitter

CA342582852

rs_1553248515

1 SubmittersRCV000524673

NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)

SNV
Germline

Chr1:201039903

Conflicting classifications of pathogenicity

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

CA083898

rs_141556780

5 SubmittersRCV000535113 RCV004586790 RCV005641692 RCV005010524 RCV006550427

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
Malignant hyperthermia, susceptibility to, 5
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
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
Actin accumulation myopathy
Congenital myopathy 4A, autosomal dominant
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

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

Criteria Provided
Conflicting Classifications

CA077944

rs_763360081

5 SubmittersRCV000529687 RCV001584331 RCV005004239 RCV006550419 RCV006342371

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

SNV
Germline

Chr1:201058433

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

Criteria Provided
Conflicting Classifications

CA082633

rs_200366112

5 SubmittersRCV000546815 RCV003487272 RCV005004242 RCV006550423 RCV005791894

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

Criteria Provided
Conflicting Classifications

CA078626

rs_149195094

3 SubmittersRCV000532209 RCV005010522 RCV006550421

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

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

Criteria Provided
Conflicting Classifications

CA5047388

rs_200730708

3 SubmittersRCV000556694 RCV001168543 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.1103G>A (p.Gly368Glu)

SNV
Germline

Chr16:723887

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789252

rs_145971446

2 SubmittersRCV000554592 RCV006327111

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789585

rs_370998388

3 SubmittersRCV000537626 RCV003156257 RCV005791893

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

SNV
Germline

Chr17:63947061

Pathogenic/Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448

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

SNV
Germline

Chr19:38585967

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

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

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183

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

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489

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

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066855

rs_202225176

3 SubmittersRCV000526099 RCV002483516 RCV003133373

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

SNV
Germline

Chr19:38496276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA308104063

rs_745432757

2 SubmittersRCV000558724 RCV002506378

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

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380

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

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
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 SubmittersRCV000591710 RCV000819538 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

5 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
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706

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

SNV
Germline

Chr19:38517520

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

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

SNV
Germline

Chr1:154176194

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342585012

rs_121964853

1 SubmittersRCV000637290

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

SNV
Germline

Chr1:201043468

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

Criteria Provided
Conflicting Classifications

CA1321791

rs_756066219

4 SubmittersRCV000651212 RCV002530539 RCV005004304 RCV006552618

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

SNV
Germline

Chr1:201041591

Conflicting classifications of pathogenicity

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

CA083706

rs_148989517

6 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308 RCV006552625

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

SNV
Germline

Chr1:201044407

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

Criteria Provided
Conflicting Classifications

CA083555

rs_183195890

9 SubmittersRCV000651269 RCV002493045 RCV003451581 RCV003451580 RCV003458497 RCV003451582 RCV003953183 RCV004025825 RCV004792337

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

SNV
Germline

Chr1:201047600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083380

rs_149036408

6 SubmittersRCV000711146 RCV001515531 RCV003451565 RCV003451564 RCV003451566 RCV003458489 RCV005010632

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

SNV
Germline

Chr1:201048683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083251

rs_377474103

8 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV003451556 RCV003456115 RCV003458485 RCV005000459 RCV005004306

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

SNV
Germline

Chr1:201077941

Conflicting classifications of pathogenicity

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

CA078399

rs_200066766

5 SubmittersRCV000651227 RCV004004092 RCV005623352 RCV005004307

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_001378030.1(CCDC78):c.554C>T (p.Thr185Met)

SNV
Germline

Chr16:725084

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7789538

rs_142129985

3 SubmittersRCV000650513 RCV003162980 RCV005639172

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

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

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

SNV
Germline

Chr19:38517532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637

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

SNV
Germline

Chr1:201078033

Conflicting classifications of pathogenicity

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

CA078252

rs_138364213

8 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV003392506 RCV002536327 RCV004004191 RCV005010641

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

SNV
Germline

Chr19:38502879

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)

SNV
Germline

Chr1:229432347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA345148327

rs_1558081797

2 SubmittersRCV000679903 RCV005862515

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

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220

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

SNV
Germline

Chr14:23414104

Likely pathogenic

MYH7-related skeletal myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA389034986

rs_1566521710

1 SubmittersRCV000681617 RCV001199131

NM_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
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

CA079656

rs_145039828

5 SubmittersRCV000686554 RCV004004250 RCV002547103 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
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079482

rs_149658326

6 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV006552712 RCV004783841

NM_000069.3(CACNA1S):c.2361-3C>T

SNV
Germline

Chr1:201069604

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

Criteria Provided
Conflicting Classifications

CA078961

rs_774194599

4 SubmittersRCV000705596 RCV002499271 RCV003446371 RCV003446373 RCV003446370 RCV003446372

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

Criteria Provided
Conflicting Classifications

CA507355614

rs_1357186643

2 SubmittersRCV000703165 RCV002499265

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

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA891844342

rs_1199304403

2 SubmittersRCV000695461 RCV002499246

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

SNV
Germline

Chr19:38460545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

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

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

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

SNV
Germline

Chr1:25811710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA696769

rs_745886248

7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417

NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)

SNV
Germline

Chr7:143320774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4536928

rs_762344462

5 SubmittersRCV000711232 RCV001163064 RCV001405014 RCV004544955

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

SNV
Germline

Chr19:38446735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069967

rs_772767943

7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860

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

SNV
Germline

Chr19:38469026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064845

rs_201174268

9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839

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

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405654623

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

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

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164

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

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863

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

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924

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

SNV
Germline

Chr9:35685752

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA373368501

rs_1563929454

2 SubmittersRCV000754748 RCV006464139

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

SNV
Germline

Chr1:201050983

Pathogenic/Likely pathogenic

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
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
Multiple Submitters
No Conflicts

CA344149425

rs_1558056376

5 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433 RCV005012304

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

SNV
Germline

Chr1:201053459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA082845

rs_201627041

7 SubmittersRCV000782249 RCV001377927 RCV003453617 RCV003453618 RCV005004416

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

SNV
Germline

Chr1:201069197

Likely pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA078912

rs_770073633

8 SubmittersRCV000782246 RCV001869163 RCV002493430 RCV003453616 RCV003456143 RCV003456144 RCV003458516

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

SNV
Germline

Chr1:154176221

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342585072

rs_1571418855

2 SubmittersRCV000808390 RCV005860154

NM_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
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

CA083724

rs_201310235

6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV004001641 RCV005004433

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

Criteria Provided
Conflicting Classifications

CA083643

rs_141618437

5 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370 RCV006545558

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

SNV
Germline

Chr1:201044339

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

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
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

CA083561

rs_202120583

3 SubmittersRCV000797715 RCV003517268 RCV005012324

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
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

CA083476

rs_757433005

4 SubmittersRCV000794541 RCV000994222 RCV005012319 RCV006552847

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
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083135

rs_371849585

6 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350 RCV006545525

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
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
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
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

CA079453

rs_747618077

5 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429 RCV006552852

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
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

Criteria Provided
Conflicting Classifications

CA079119

rs_201205904

5 SubmittersRCV000800242 RCV003517269 RCV003489884 RCV005004432

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

SNV
Germline

Chr1:201070336

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
CACNA1S-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078922

rs_771865391

7 SubmittersRCV000803519 RCV001585731 RCV003453673 RCV003453675 RCV003458533 RCV003453674 RCV003908099 RCV004702433 RCV004601284

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

SNV
Germline

Chr1:201085002

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078030

rs_112236248

4 SubmittersRCV000807536 RCV003517271 RCV005004438 RCV005641814

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4537072

rs_772027125

4 SubmittersRCV000822037 RCV001836901 RCV006257323

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

SNV
Germline

Chr7:143330880

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405634883

rs_1440262870

6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

NM_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_001100.4(ACTA1):c.739G>A (p.Gly247Arg)

SNV
Germline

Chr1:229432063

Pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Actin accumulation myopathy
Condition: not provided
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 2c, severe infantile, autosomal dominant
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345146753

rs_1057521117

4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306

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

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769

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

SNV
Germline

Chr1:229432016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442804

rs_141030526

3 SubmittersRCV000877200 RCV001099824 RCV001099825 RCV001545990

NM_001843.4(CNTN1):c.633C>T (p.Cys211=)

SNV
Germline

Chr12:40929932

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6516660

rs_746981200

2 SubmittersRCV000878880 RCV006265400

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
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

CA422686681

rs_759934490

6 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003458569 RCV003413713 RCV003454932

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

SNV
Germline

Chr1:201083241

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
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

CA078127

rs_146400205

3 SubmittersRCV000926262 RCV004003214 RCV005004466

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

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
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.2839G>A (p.Val947Ile)

SNV
Germline

Chr1:201065852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA079317

rs_76460090

6 SubmittersRCV000994228 RCV003455017 RCV003455018 RCV002550662 RCV003455019 RCV003458580 RCV005004475

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

SNV
Germline

Chr1:201075539

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078661

rs_144590408

5 SubmittersRCV001035245 RCV004004424 RCV005004476 RCV005532810

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

SNV
Germline

Chr1:201077907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078427

rs_751671175

6 SubmittersRCV001101909 RCV001248214 RCV003458582 RCV003455023 RCV003455024 RCV005012426 RCV005630851

NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)

SNV
Germline

Chr1:201089400

Conflicting classifications of pathogenicity

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

CA083991

rs_768015104

8 SubmittersRCV000996098 RCV003455032 RCV003455033 RCV003458583 RCV003456172 RCV003769351 RCV005012431

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

SNV
Germline

Chr19:38446508

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068570

rs_766836202

6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442

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

SNV
Germline

Chr1:229432120

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345147089

rs_1558081664

3 SubmittersRCV000995477 RCV001869389 RCV004587005

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

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475

NM_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

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083466

rs_774256022

4 SubmittersRCV001038054 RCV004004718 RCV005004495 RCV006279297

NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)

SNV
Germline

Chr1:201047182

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
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA35996167

rs_891244994

4 SubmittersRCV001065639 RCV004000149 RCV005012521

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

SNV
Germline

Chr1:201077916

Pathogenic/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
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
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083998

rs_186538122

4 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455302 RCV003455303 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
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083990

rs_555596737

3 SubmittersRCV001071805 RCV004000208 RCV005012532

NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)

SNV
Germline

Chr1:201112197

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

Criteria Provided
Conflicting Classifications

CA36018215

rs_977298165

3 SubmittersRCV001054284 RCV003455242 RCV003455243 RCV003456182 RCV003458606 RCV005005011

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

SNV
Germline

Chr1:25805219

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA696513

rs_778603129

5 SubmittersRCV001039378 RCV001732020

NM_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
Congenital myopathy 20
not specified

Criteria Provided
Conflicting Classifications

CA7457630

rs_375998723

3 SubmittersRCV001063110 RCV003492216 RCV004030481

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_001378030.1(CCDC78):c.155C>T (p.Ala52Val)

SNV
Germline

Chr16:725991

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394105485

rs_1432121366

2 SubmittersRCV001035560 RCV005791979

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

SNV
Germline

Chr17:63945465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400617905

rs_1181083611

4 SubmittersRCV001065707 RCV003227512 RCV002512136 RCV004792710

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

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620

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

SNV
Germline

Chr19:38466117

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791

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

SNV
Germline

Chr19:38499671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684

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

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071860

rs_767805554

6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

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

SNV
Germline

Chr19:38512483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

4 SubmittersRCV001057839 RCV002482022 RCV004000093

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

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807

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

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054848

rs_374325589

4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962

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

Criteria Provided
Conflicting Classifications

CA083530

rs_372436488

8 SubmittersRCV001092292 RCV001437600 RCV004000216 RCV004609622 RCV005012549

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

SNV
Germline

Chr1:201065906

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

Criteria Provided
Conflicting Classifications

CA079290

rs_146903750

3 SubmittersRCV002995961 RCV005010857 RCV005401995

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

SNV
Germline

Chr19:38519244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773

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

SNV
Germline

Chr1:154162297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA30762609

rs_564296987

1 SubmittersRCV001097896 RCV001097897

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

SNV
Germline

Chr1:154166860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA30765532

rs_557217738

1 SubmittersRCV001098594 RCV001096834

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

SNV
Germline

Chr1:154167780

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA30766147

rs_144482403

1 SubmittersRCV001100497 RCV001100498

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

SNV
Germline

Chr1:154176243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1125746

rs_149765446

2 SubmittersRCV001098780 RCV001098779 RCV002067751

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

Criteria Provided
Conflicting Classifications

CA079050

rs_764821044

5 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454

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

SNV
Germline

Chr1:201077110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078494

rs_373525085

7 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV005792010

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

5 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
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA423754785

rs_1659932688

2 SubmittersRCV001096303 RCV001101722 RCV001101723

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

SNV
Germline

Chr1:229432575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1442882

rs_371410845

2 SubmittersRCV001098139 RCV001098140 RCV001098141

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

SNV
Germline

Chr7:143339294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537374

rs_781587827

2 SubmittersRCV001161644 RCV003769774

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

SNV
Germline

Chr7:143342407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537497

rs_763850295

4 SubmittersRCV001163171 RCV001358944 RCV003323800 RCV004800707

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

SNV
Germline

Chr7:143345607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537527

rs_200385034

2 SubmittersRCV001163174 RCV003769787

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

SNV
Germline

Chr7:143351820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4537793

rs_769053787

3 SubmittersRCV001161761 RCV005225247 RCV005005057

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

SNV
Germline

Chr7:143323300

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345147895

rs_2527437739

2 SubmittersRCV003228209 RCV006474073

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

SNV
Unknown

Chr14:23425789

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA389048940

rs_1247313340

1 SubmittersRCV001198111

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

SNV
Germline

Chr14:23426834

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA389049378

rs_397516127

5 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156 RCV005866844

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

SNV
Germline

Chr1:201061398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA079556

rs_562504992

4 SubmittersRCV001222445 RCV004010745 RCV004601406 RCV005012632

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

SNV
Germline

Chr12:109814571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6780589

rs_777647151

3 SubmittersRCV001214255 RCV001587231 RCV005622077

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

Criteria Provided
Conflicting Classifications

CA069044

rs_138617219

3 SubmittersRCV001217935 RCV002504268 RCV005402988

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

SNV
Germline

Chr1:201070357

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078915

rs_777247285

3 SubmittersRCV001202456 RCV005005069 RCV006545934

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_001843.4(CNTN1):c.2326C>T (p.Pro776Ser)

SNV
Germline

Chr12:41016823

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6517108

rs_199833589

2 SubmittersRCV001231411 RCV005802076

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

Criteria Provided
Conflicting Classifications

CA078278

rs_140246559

6 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787

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

SNV
Germline

Chr1:201069596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA344108070

rs_1157720606

6 SubmittersRCV001254711 RCV003152617 RCV003449816 RCV003145495 RCV003449815 RCV003456486

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

SNV
Germline

Chr9:35683232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA373363229

rs_1824676022

8 SubmittersRCV001254895 RCV001573796 RCV003389253 RCV005645238 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
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
Conflicting Classifications

CA079080

rs_200334886

3 SubmittersRCV001307461 RCV005005154 RCV006548081

NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)

SNV
Germline

Chr1:201070387

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

Criteria Provided
Conflicting Classifications

CA344109538

rs_1313818230

5 SubmittersRCV001308957 RCV002499591 RCV003458662 RCV003449883 RCV003449884 RCV003449882 RCV005630916

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

SNV
Germline

Chr1:201078032

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
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
Conflicting Classifications

CA078255

rs_553739117

4 SubmittersRCV001297932 RCV002285472 RCV005012736 RCV006548062

NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)

SNV
Germline

Chr16:726037

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789747

rs_144624081

2 SubmittersRCV001298343 RCV005792070

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

Criteria Provided
Conflicting Classifications

CA079098

rs_376899610

5 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446706 RCV003446705 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
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710

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

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144

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

SNV
Germline

Chr1:201066897

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

Criteria Provided
Conflicting Classifications

CA079154

rs_553593355

4 SubmittersRCV001343372 RCV003449965 RCV003449966 RCV003458673 RCV003449967 RCV005005190 RCV006347713

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
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

CA078628

rs_776996468

3 SubmittersRCV005005858 RCV001347797 RCV004808022

NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu)

SNV
Germline

Chr16:725416

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789623

rs_144640928

2 SubmittersRCV001338305 RCV005792093

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
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083203

rs_372383822

5 SubmittersRCV001372444 RCV002548661 RCV005005894 RCV005912560 RCV006548232

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

Criteria Provided
Conflicting Classifications

CA078873

rs_752513328

5 SubmittersRCV001372783 RCV003517329 RCV003169919 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
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

CA084021

rs_577022740

4 SubmittersRCV001367207 RCV005005214 RCV004006807

NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr16:724957

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789503

rs_763959604

2 SubmittersRCV001359517 RCV005792108

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

SNV
Germline

Chr19:38463527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA308074291

rs_919322708

5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034

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

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

4 SubmittersRCV001370548 RCV002504621 RCV004006823

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

SNV
Germline

Chr17:63971725

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA083175

rs_574154912

4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747

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
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

CA344146480

rs_1224786667

6 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV004009035 RCV005006037

NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)

SNV
Germline

Chr17:63971192

Conflicting classifications of pathogenicity

SCN4A-related non-dystrophic myotonia
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Paramyotonia congenita of Von Eulenburg
7 conditions
Congenital myasthenic syndrome 16
Congenital myopathy 22A, classic
Congenital myopathy 22B, severe fetal

Criteria Provided
Conflicting Classifications

CA8710086

rs_764718003

7 SubmittersRCV002267640 RCV002464491 RCV003227995 RCV003227994 RCV005023264 RCV006249395

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

Criteria Provided
Conflicting Classifications

CA083346

rs_780785403

5 SubmittersRCV002047777 RCV005008399 RCV005308678 RCV006550844 RCV005639386

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
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

CA079286

rs_138708497

4 SubmittersRCV001877178 RCV002551094 RCV005005323 RCV006550591

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

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068817

rs_761154999

4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346

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

Criteria Provided
Conflicting Classifications

CA082794

rs_775009783

6 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644 RCV006550648

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

SNV
Germline

Chr19:38575917

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593

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

SNV
Germline

Chr1:201076928

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
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078581

rs_377461013

4 SubmittersRCV002029875 RCV005006093 RCV005241469

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

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051

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

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

Criteria Provided
Conflicting Classifications

CA083801

rs_200434921

4 SubmittersRCV002038246 RCV002486665 RCV003458818 RCV003456271 RCV003456272 RCV003453957

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

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
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079319

rs_550479246

4 SubmittersRCV001957912 RCV005006273 RCV006550735 RCV005432862

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

SNV
Germline

Chr1:154191975

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342587508

rs_2148295444

1 SubmittersRCV002014040

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

SNV
Germline

Chr1:201089451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083969

rs_767790285

5 SubmittersRCV002001260 RCV004011066 RCV005535221 RCV005002755

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789271

rs_754906673

3 SubmittersRCV002051003 RCV005437379 RCV006327304

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

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
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 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 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA1125711

rs_769493959

2 SubmittersRCV002021590 RCV004587292

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

SNV
Germline

Chr1:154191323

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051308

rs_2526056353

4 SubmittersRCV002285529 RCV005412365 RCV005868551

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

SNV
Germline

Chr1:201077863

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

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

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
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083621

rs_576536458

6 SubmittersRCV002176965 RCV003149015 RCV004011197 RCV005002793

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

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
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
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078529

rs_773440873

6 SubmittersRCV002288338 RCV003325600 RCV003101662 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342585070

rs_199474713

2 SubmittersRCV003058660 RCV006454326

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

SNV
Germline

Chr1:201060811

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

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

Malignant hyperthermia, susceptibility to, 5
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

Criteria Provided
Conflicting Classifications

CA079149

rs_573597311

4 SubmittersRCV002647291 RCV004009491 RCV005002970

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

SNV
Germline

Chr1:201062017

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA079469

rs_369941827

4 SubmittersRCV002637771 RCV005011075 RCV005623503 RCV006546410

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

SNV
Germline

Chr1:201061410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1321809

rs_1473668614

6 SubmittersRCV002628591 RCV003491260 RCV004009498 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

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078582

rs_147382463

4 SubmittersRCV003104780 RCV004725634 RCV005011206 RCV006546435

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

SNV
Germline

Chr1:201047564

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

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

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

Criteria Provided
Conflicting Classifications

CA079456

rs_778128095

3 SubmittersRCV002572843 RCV005008622 RCV006546021

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

SNV
Germline

Chr2:151609977

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Congenital myopathy
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348777384

rs_2097887468

4 SubmittersRCV002705678 RCV004571212 RCV005626683 RCV005254127

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

Criteria Provided
Conflicting Classifications

CA084002

rs_779029870

5 SubmittersRCV002727016 RCV004007566 RCV005008721 RCV005639432

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
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

CA344137438

rs_1313984683

4 SubmittersRCV002886044 RCV004066004 RCV005008781 RCV006546144

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
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

Criteria Provided
Conflicting Classifications

CA078925

rs_566562378

4 SubmittersRCV002895751 RCV005002898 RCV004750783 RCV006546153

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

Criteria Provided
Conflicting Classifications

CA078650

rs_150646872

6 SubmittersRCV002882236 RCV004007657 RCV003409948 RCV005008775 RCV005628958

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.724C>T (p.Pro242Ser)

SNV
Germline

Chr1:201089434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083975

rs_376595247

3 SubmittersRCV002763370 RCV005011127 RCV006560872

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7558712

rs_773401224

4 SubmittersRCV003141472 RCV005099364 RCV005622220 RCV006307342

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
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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344158674

rs_1420388292

4 SubmittersRCV003217186 RCV003779707 RCV004009670 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

Pathogenic/Likely pathogenic

Congenital myopathy
Primary dilated cardiomyopathy
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345146596

rs_1558081624

2 SubmittersRCV003333909 RCV003333908 RCV005871136

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345151024

rs_367543049

3 SubmittersRCV003333931 RCV006548521 RCV006249401

NM_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

Conflicting classifications of pathogenicity

Congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA144009028

rs_938886650

2 SubmittersRCV003447798 RCV005645480

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

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

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

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

CA35992730

rs_148724065

4 SubmittersRCV003789322 RCV004005977 RCV005003711

NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)

SNV
Germline

Chr1:201112216

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344157756

rs_1553254275

2 SubmittersRCV003787594 RCV006264146

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

SNV
Germline

Chr1:201041601

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

CA1219569652

rs_1660213551

3 SubmittersRCV003792706 RCV004006007 RCV005003713

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

SNV
Germline

Chr1:154191185

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342586906

rs_2526055328

1 SubmittersRCV003792009

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

SNV
Germline

Chr1:154191292

Likely pathogenic

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

Criteria Provided
Single Submitter

CA342587281

rs_2148294647

1 SubmittersRCV003802400

NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)

SNV
Germline

Chr1:201047165

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344141866

rs_1351956022

2 SubmittersRCV003817944 RCV006264156

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
Inborn genetic diseases
Condition: not provided
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

CA083031

rs_146158332

5 SubmittersRCV003818041 RCV005537694 RCV004721229 RCV005013201 RCV006548909

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

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

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004805738 RCV005003812

NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)

SNV
Germline

Chr1:201076962

Conflicting classifications of pathogenicity

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

2 SubmittersRCV005003111 RCV006551342

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

SNV
Germline

Chr1:201050982

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009365

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

SNV
Germline

Chr1:201051123

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009403

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

SNV
Germline

Chr1:201066318

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005755

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

SNV
Germline

Chr1:201040666

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005655

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

SNV
Germline

Chr1:201091983

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005012000

NM_001256545.2(MEGF10):c.1041C>T (p.Gly347=)

SNV
Germline

Chr5:127410512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033254 RCV006489247

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

SNV
Germline

Chr1:229432297