Total 338 pathogenic variants reported for Congenital myotonia, autosomal dominant form 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) SNV
Germline		 Chr7:143332490 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
CLCN1-related disorder
Congenital myotonia, autosomal dominant form
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258010 rs_121912799

16 SubmittersRCV000019083RCV000638232RCV000346725RCV002291268RCV000184008RCV001548747
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) SNV
Germline		 Chr7:143321841 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258012 rs_80356700

14 SubmittersRCV000627758RCV004532391RCV000291823RCV003317041RCV000019084RCV000020113
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) SNV
Germline		 Chr7:143339527 Pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258016 rs_121912801

6 SubmittersRCV001781281RCV000692794RCV004532392RCV000019087
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) SNV
Germline		 Chr7:143339290 Pathogenic Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA258018 rs_80356694

3 SubmittersRCV000020101RCV001237767RCV000019089
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) SNV
Germline		 Chr7:143342001 Pathogenic/Likely pathogenic Batten-Turner congenital myopathy
Myotonia levior
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127249 rs_80356696

7 SubmittersRCV000020103RCV000019090RCV000498537RCV000685420RCV001253100
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV
Germline		 Chr7:143330788 Pathogenic Batten-Turner congenital myopathy
Myotonia
CLCN1-related disorder
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258020 rs_80356690

7 SubmittersRCV000020117RCV000626584RCV004528125RCV000711241RCV001196224RCV000019091RCV000690053
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) SNV
Germline		 Chr7:143330789 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258022 rs_121912805

8 SubmittersRCV000019093RCV001041229RCV001781282RCV002468557
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) SNV
Germline		 Chr7:143330868 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Condition: not provided
6 conditions
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258024 rs_80356702

12 SubmittersRCV000019095RCV000019094RCV000020121RCV000516960RCV000626585RCV000763169
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) SNV
Germline		 Chr7:143339534 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258026 rs_121912807

3 SubmittersRCV000019096RCV001382414
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
EMG: myopathic abnormalities
Myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait
Cerebral palsy
Abnormality of the musculature
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258028 rs_55960271

30 SubmittersRCV000019099RCV000019098RCV000020107RCV000292791RCV000626582RCV000627759RCV001564017RCV001794458RCV001813999RCV004737160
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) SNV
Germline		 Chr7:143320744 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA258030 rs_80356699

3 SubmittersRCV001049292RCV000020109RCV000019100
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) SNV
Germline		 Chr7:143331265 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341533 rs_80356703

8 SubmittersRCV000517885RCV000638255RCV003335049RCV003322591RCV003338385
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) SNV
Germline		 Chr7:143339289 Pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_80356695

1 SubmittersRCV002267654
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) SNV
Germline		 Chr7:143341938 Pathogenic Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341539 rs_80356704

8 SubmittersRCV000020102RCV000638249RCV000711222RCV002267607
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) SNV
Germline		 Chr7:143342013 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341541 rs_80356697

4 SubmittersRCV001224306RCV001826481RCV003137538
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) SNV
Germline		 Chr7:143321729 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA341547 rs_80356686

4 SubmittersRCV001208684RCV003144110RCV004700258
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) SNV
Germline		 Chr7:143321744 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341549 rs_80356685

3 SubmittersRCV000545021RCV000517112
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) SNV
Germline		 Chr7:143324442 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341551 rs_80356687

7 SubmittersRCV000497783RCV000763168RCV003227570
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) SNV
Germline		 Chr7:143324486 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_80356688

1 SubmittersRCV002043970
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) SNV
Germline		 Chr7:143330838 Pathogenic Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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

10 SubmittersRCV000020118RCV000477848RCV000483128RCV002243656RCV004541011RCV004562217
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 dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341559 rs_80356691

5 SubmittersRCV000020119RCV000516849RCV001823101RCV002514123RCV004700259
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) SNV
Germline		 Chr7:143330855 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341561 rs_80356692

11 SubmittersRCV000224894RCV000638231RCV001196602RCV003883120
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) SNV
Germline		 Chr7:143332755 Pathogenic/Likely pathogenic Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347374 rs_774843953

7 SubmittersRCV000193137RCV000518351RCV000701519RCV003313944
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 SubmittersRCV000194136RCV000793565RCV001823126RCV003326370
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) SNV
Germline		 Chr7:143321432 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Myotonia
not specified
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Tip-toe gait		 Criteria Provided
Conflicting Classifications
 CA276129 rs_149729531

17 SubmittersRCV000191070RCV000191068RCV000415172RCV000479583RCV000556194RCV000711233RCV001753591
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		 Criteria Provided
Conflicting Classifications
 CA4537173 rs_118066140

12 SubmittersRCV000239241RCV000404319RCV000513813RCV000660618RCV001086594
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

10 SubmittersRCV000238941RCV000545584RCV000407412RCV001199130RCV001705317
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537075 rs_776073429

6 SubmittersRCV000254934RCV000305146RCV000543122
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) SNV
Germline		 Chr7:143339304 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
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4537377 rs_146457619

12 SubmittersRCV000342021RCV000638257RCV000778823RCV001589311RCV004737396
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) SNV
Germline		 Chr7:143330772 Pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Smith-Lemli-Opitz syndrome
Tip-toe gait
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537163 rs_150885084

13 SubmittersRCV000305463RCV000560216RCV001753743RCV003319192RCV004535246
NM_000083.3(CLCN1):c.2364+2T>A SNV
Germline		 Chr7:143346660 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603045 rs_886041384

7 SubmittersRCV000391842RCV001037641RCV003235170
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) SNV
Germline		 Chr7:143321720 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537004 rs_369773321

7 SubmittersRCV000530513RCV000711236
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) SNV
Germline		 Chr7:143332864 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA4537336 rs_201919331

7 SubmittersRCV000513242RCV001084293RCV001161643RCV004701391
NM_000083.3(CLCN1):c.180+3A>T SNV
Germline		 Chr7:143316395 Pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536844 rs_202217420

16 SubmittersRCV000484389RCV000763167RCV000995506RCV002464158
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

5 SubmittersRCV000297363RCV000481219RCV001078695
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 recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537594 rs_149316679

5 SubmittersRCV000279484RCV000518175RCV000638263RCV001712348
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		 Criteria Provided
Conflicting Classifications
 CA4537729 rs_201861334

6 SubmittersRCV000368010RCV000711230RCV000700433
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) SNV
Germline		 Chr7:143350609 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
 CA4537730 rs_775384507

3 SubmittersRCV000402752RCV002519502RCV000991821
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) SNV
Germline		 Chr7:143320675 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait
Congenital myotonia, autosomal recessive form
not specified		 Criteria Provided
Conflicting Classifications
 rs_201509501

8 SubmittersRCV001161535RCV000998933RCV000792000RCV003319210RCV003994119RCV004800587
NM_000083.3(CLCN1):c.756G>A (p.Val252=) SNV
Germline		 Chr7:143323368 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA10625396 rs_886062034

2 SubmittersRCV000391740RCV002524524
NM_000083.3(CLCN1):c.1251+11G>T SNV
Germline		 Chr7:143332514 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA4537288 rs_780748786

2 SubmittersRCV000356921RCV003766064
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) SNV
Germline		 Chr7:143316368 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA10628372 rs_886062032

2 SubmittersRCV000266956RCV003766063
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) SNV
Germline		 Chr7:143320676 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4536913 rs_756353660

5 SubmittersRCV000263405RCV000536073RCV004022040RCV001571296
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) SNV
Germline		 Chr7:143323319 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA16618364 rs_1064794643

2 SubmittersRCV000484110RCV001053739
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) SNV
Germline		 Chr7:143332860 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16618365 rs_1064796557

2 SubmittersRCV002525941RCV003332183
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) SNV
Germline		 Chr7:143339519 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications
 CA4537404 rs_147493705

3 SubmittersRCV000711220RCV001088318RCV004999523
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) SNV
Germline		 Chr7:143331264 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621861 rs_759761559

5 SubmittersRCV000488375RCV000701179RCV001030775
NM_000083.3(CLCN1):c.853+17C>A SNV
Germline		 Chr7:143324509 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA4537137 rs_201114390

2 SubmittersRCV000493762RCV001856968
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) SNV
Germline		 Chr7:143332483 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537282 rs_756199349

6 SubmittersRCV000494058RCV000536398RCV003317242
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) SNV
Germline		 Chr7:143346947 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369652442 rs_1131691551

3 SubmittersRCV000494185RCV001387794RCV002289680
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) SNV
Germline		 Chr7:143330825 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369641598 rs_1554436427

2 SubmittersRCV000498675RCV001857007
NM_000083.3(CLCN1):c.2403+5G>A SNV
Germline		 Chr7:143346954 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA578446025 rs_1474520642

2 SubmittersRCV000498136RCV000689048
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) SNV
Germline		 Chr7:143323375 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications
 CA369686764 rs_746691295

3 SubmittersRCV000518447RCV000815779RCV003323583
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) SNV
Germline		 Chr7:143324450 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369687538 rs_1554435334

2 SubmittersRCV000517249RCV002525026
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) SNV
Germline		 Chr7:143324465 Conflicting classifications of pathogenicity not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537128 rs_765181341

4 SubmittersRCV000518465RCV001071563RCV001662525
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) SNV
Germline		 Chr7:143330813 Conflicting classifications of pathogenicity Condition: not provided
Abnormality of the musculature
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA168212450 rs_202179484

7 SubmittersRCV000517685RCV001814177RCV002227481RCV001851431RCV004787821
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) SNV
Germline		 Chr7:143330826 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575434 rs_1229066957

4 SubmittersRCV000516826RCV001386290RCV004760548
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) SNV
Germline		 Chr7:143330867 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369641691 rs_1337473924

3 SubmittersRCV000518686RCV001390938
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) SNV
Germline		 Chr7:143330897 Pathogenic/Likely pathogenic 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
 CA4537187 rs_774396430

7 SubmittersRCV000517879RCV000638252RCV004787822RCV004737585
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) SNV
Germline		 Chr7:143331315 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537214 rs_767000881

4 SubmittersRCV000516411RCV000527543RCV002227480
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) SNV
Germline		 Chr7:143331615 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537246 rs_201714423

5 SubmittersRCV000517902RCV000695020RCV004535670
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) SNV
Germline		 Chr7:143332733 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537307 rs_756981034

4 SubmittersRCV000518336RCV003330738RCV001857897
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) SNV
Germline		 Chr7:143332734 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4537308 rs_780834658

7 SubmittersRCV000517508RCV002267615RCV003766915RCV004535671
NM_000083.3(CLCN1):c.1401+1G>T SNV
Germline		 Chr7:143332874 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537340 rs_769861892

3 SubmittersRCV000516613RCV001060222RCV003485596
NM_000083.3(CLCN1):c.1471+1G>A SNV
Germline		 Chr7:143339323 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537382 rs_375596425

13 SubmittersRCV000517639RCV000638235RCV003225946RCV003992311
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) SNV
Germline		 Chr7:143341952 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA4537439 rs_777685454

4 SubmittersRCV000517072RCV001049002RCV003338626
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) SNV
Germline		 Chr7:143342451 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168224771 rs_201894078

6 SubmittersRCV000518160RCV000638229
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) SNV
Germline		 Chr7:143346201 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy		 Criteria Provided
Conflicting Classifications
 CA4537596 rs_144612641

5 SubmittersRCV000516763RCV000552273RCV001165266
NM_000083.3(CLCN1):c.2596-1G>A SNV
Germline		 Chr7:143351593 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537751 rs_771721648

4 SubmittersRCV000522584RCV000813032
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) SNV
Germline		 Chr7:143351862 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA4537805 rs_150796358

7 SubmittersRCV000711231RCV000798907RCV001161762RCV003883154
NM_000083.3(CLCN1):c.1167-10T>C SNV
Germline		 Chr7:143332409 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537269 rs_543120965

10 SubmittersRCV000540290RCV000711215RCV000987989RCV003992320
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) SNV
Germline		 Chr7:143319794 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369680508 rs_1554434400

2 SubmittersRCV000541514RCV001386447
NM_000083.3(CLCN1):c.264G>A (p.Val88=) SNV
Germline		 Chr7:143319838 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
RASopathy
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536880 rs_759188441

3 SubmittersRCV000558306RCV004541677RCV004525964RCV004760566
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) SNV
Germline		 Chr7:143350387 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369652499 rs_1554439817

2 SubmittersRCV001384031RCV001783047
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) SNV
Germline		 Chr7:143332431 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369643163 rs_1554436799

2 SubmittersRCV000578533RCV000802171
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) SNV
Germline		 Chr7:143316225 Conflicting classifications of pathogenicity not specified
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369676375 rs_1322496244

2 SubmittersRCV000605421RCV001860307
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) SNV
Germline		 Chr7:143331279 Conflicting classifications of pathogenicity EMG: myotonic discharges
Myotonia
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369641865 rs_1554436510

2 SubmittersRCV000626580RCV003767841
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) SNV
Germline		 Chr7:143346225 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537603 rs_112282456

5 SubmittersRCV000638245RCV002272312RCV002529875RCV003488748
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) SNV
Germline		 Chr7:143316351 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4536828 rs_185031797

4 SubmittersRCV000638251RCV000714896RCV000714895RCV002473080
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) SNV
Germline		 Chr7:143330810 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537170 rs_764100025

7 SubmittersRCV000638241RCV000761298RCV000991830RCV002267619
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) SNV
Germline		 Chr7:143339295 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_746125212

8 SubmittersRCV000019088RCV000657922RCV000810078RCV003989574
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) SNV
Germline		 Chr7:143320771 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_748639603

4 SubmittersRCV000692856RCV000991825RCV003319405
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) SNV
Germline		 Chr7:143346186 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_139262486

5 SubmittersRCV000691444RCV003144513RCV004025088
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) SNV
Germline		 Chr7:143350610 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_749205522

4 SubmittersRCV000706396RCV001289382RCV001824155
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) SNV
Germline		 Chr7:143332769 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1027814542

3 SubmittersRCV000691234RCV001662756RCV003117491
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) SNV
Germline		 Chr7:143339296 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1380726444

4 SubmittersRCV000685629RCV001756153
NM_000083.3(CLCN1):c.2172+1G>T SNV
Germline		 Chr7:143345763 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1273524525

3 SubmittersRCV000693331RCV001091924
NM_000083.3(CLCN1):c.2285-1G>C SNV
Germline		 Chr7:143346578 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1222525763

1 SubmittersRCV000695019
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) SNV
Germline		 Chr7:143351720 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_146862992

2 SubmittersRCV000689675
NM_000083.3(CLCN1):c.302-1G>A SNV
Germline		 Chr7:143320663 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_529377088

3 SubmittersRCV000700752RCV002289981RCV003489824
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) SNV
Germline		 Chr7:143339295 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_746125212

2 SubmittersRCV000691722RCV004997160
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 recessive form
Congenital myotonia, autosomal dominant form
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_762344462

5 SubmittersRCV000711232RCV001163064RCV001405014RCV004544955
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) SNV
Germline		 Chr7:143321745 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1347382107

2 SubmittersRCV000711237RCV001861960
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) SNV
Germline		 Chr7:143330823 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_1563078716

4 SubmittersRCV000711242RCV003768103
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) SNV
Germline		 Chr7:143331316 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1282349760

5 SubmittersRCV000711214RCV001861958RCV002289993
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) SNV
Germline		 Chr7:143332734 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_780834658

2 SubmittersRCV000711216RCV002534494
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) SNV
Germline		 Chr7:143332871 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_149892539

4 SubmittersRCV000711218RCV001063068
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) SNV
Germline		 Chr7:143339610 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1563083476

3 SubmittersRCV000711221RCV001296751RCV003446379
NM_000083.3(CLCN1):c.1930+1G>A SNV
Germline		 Chr7:143342506 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_771002652

4 SubmittersRCV000711226RCV003768102
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) SNV
Germline		 Chr7:143323354 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_561470261

3 SubmittersRCV000760440RCV001223937
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) SNV
Germline		 Chr7:143350587 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1563090141

3 SubmittersRCV000762485RCV001855956RCV003319419
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) SNV
Germline		 Chr7:143323375 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_746691295

2 SubmittersRCV000784895RCV000784894RCV002535707
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) SNV
Germline		 Chr7:143323386 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Abnormality of the musculature
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_770605959

5 SubmittersRCV001063540RCV001836882RCV003883164RCV004997311
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr7:143321409 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait		 Criteria Provided
Single Submitter
 rs_1586485406

2 SubmittersRCV000819257RCV003319212
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) SNV
Germline		 Chr7:143321411 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_771532474

1 SubmittersRCV000800510
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) SNV
Germline		 Chr7:143321843 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1586486170

2 SubmittersRCV000816296RCV002298785
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) SNV
Germline		 Chr7:143323318 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_776173406

2 SubmittersRCV000794264RCV003144594
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_772027125

2 SubmittersRCV000822037RCV001836901
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) SNV
Germline		 Chr7:143324451 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1475869303

1 SubmittersRCV000814953
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) SNV
Germline		 Chr7:143324456 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_921162119

2 SubmittersRCV000821657RCV001091921
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) SNV
Germline		 Chr7:143330877 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1478129213

5 SubmittersRCV000809623RCV000991831
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) SNV
Germline		 Chr7:143330880 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_780150093

2 SubmittersRCV000800361RCV001836890
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) SNV
Germline		 Chr7:143342018 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1586510615

2 SubmittersRCV000823200RCV004768705
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) SNV
Germline		 Chr7:143342130 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1586510870

1 SubmittersRCV000791909
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) SNV
Germline		 Chr7:143342467 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy		 Criteria Provided
Conflicting Classifications
 rs_749762818

2 SubmittersRCV000794383RCV001163173
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) SNV
Germline		 Chr7:143345541 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_754350357

1 SubmittersRCV000793259
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) SNV
Germline		 Chr7:143351832 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139659129

5 SubmittersRCV000876537RCV001546134RCV004530851
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
 rs_760323048

3 SubmittersRCV001165162RCV001433251RCV003320775
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) SNV
Germline		 Chr7:143339517 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_770900468

6 SubmittersRCV000987990RCV001212828RCV002269327
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) SNV
Germline		 Chr7:143323309 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139039122

5 SubmittersRCV000995507RCV002549767RCV000991827RCV004528326
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) SNV
Germline		 Chr7:143351643 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_745329674

4 SubmittersRCV000991822RCV001071809
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) SNV
Germline		 Chr7:143345648 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1417174086

2 SubmittersRCV001008657RCV003769412
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) SNV
Germline		 Chr7:143330778 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1266327660

1 SubmittersRCV001036751
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) SNV
Germline		 Chr7:143332499 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1360333956

2 SubmittersRCV004782639RCV001069020
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) SNV
Germline		 Chr7:143332771 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1802763171

1 SubmittersRCV001062860
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) SNV
Germline		 Chr7:143339619 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1319653705

1 SubmittersRCV001067338
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) SNV
Germline		 Chr7:143341988 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_546411827

3 SubmittersRCV001067172RCV004584848RCV004689977
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) SNV
Germline		 Chr7:143341996 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778647317

2 SubmittersRCV001047235RCV003323787
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) SNV
Germline		 Chr7:143342131 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_376321837

1 SubmittersRCV001069532
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) SNV
Germline		 Chr7:143342500 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1803112361

3 SubmittersRCV001042853RCV002473172RCV003327299
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) SNV
Germline		 Chr7:143345761 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1803225186

1 SubmittersRCV001045841
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) SNV
Germline		 Chr7:143346635 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_117661165

2 SubmittersRCV001057097RCV003363086
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) SNV
Germline		 Chr7:143346657 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199610988

2 SubmittersRCV001040281RCV004720045
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) SNV
Germline		 Chr7:143351783 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_143075418

4 SubmittersRCV001040990RCV003145268RCV004031234
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) SNV
Germline		 Chr7:143351831 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_774199742

2 SubmittersRCV001066318RCV002554488
NM_000083.3(CLCN1):c.2172+1G>A SNV
Germline		 Chr7:143345763 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1273524525

3 SubmittersRCV001037981RCV001091923RCV001824165
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) SNV
Germline		 Chr7:143339607 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1460714146

4 SubmittersRCV001091922RCV001862702RCV002267630
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) SNV
Not applicable		 Chr7:143331262 Pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_1802715644

1 SubmittersRCV001257324
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
 rs_781587827

2 SubmittersRCV001161644RCV003769774
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) SNV
Germline		 Chr7:143342407 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
not specified
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_763850295

4 SubmittersRCV001163171RCV003323800RCV004800707RCV001358944
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) SNV
Germline		 Chr7:143345607 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_200385034

2 SubmittersRCV001163174RCV003769787
NM_000083.3(CLCN1):c.697-9C>A SNV
Germline		 Chr7:143323300 Conflicting classifications of pathogenicity Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_201207110

2 SubmittersRCV001165161RCV003769798
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
 rs_1027351084

2 SubmittersRCV001158442RCV003769757
NM_000083.3(CLCN1):c.2284+12C>G SNV
Germline		 Chr7:143346263 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1472307602

2 SubmittersRCV001196294RCV003770202
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) SNV
Germline		 Chr7:143339290 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_80356694

1 SubmittersRCV001212337
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) SNV
Germline		 Chr7:143342025 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1269268607

3 SubmittersRCV001203792RCV002245868RCV002267633RCV002267634
NM_000083.3(CLCN1):c.181-2A>G SNV
Germline		 Chr7:143319753 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1802376231

1 SubmittersRCV001212715
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) SNV
Germline		 Chr7:143330834 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1802702190

2 SubmittersRCV001230055RCV001780164
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) SNV
Germline		 Chr7:143345652 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1563087092

1 SubmittersRCV001236573
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) SNV
Germline		 Chr7:143350463 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_755343536

1 SubmittersRCV001257255
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) SNV
Germline		 Chr7:143319836 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_147581794

2 SubmittersRCV001240665RCV001587269
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) SNV
Germline		 Chr7:143339289 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter
 rs_80356695

1 SubmittersRCV001253400
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) SNV
Germline		 Chr7:143339607 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1460714146

4 SubmittersRCV001262904RCV001664789
NM_000083.3(CLCN1):c.563-8G>A SNV
Germline		 Chr7:143321707 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_763640926

2 SubmittersRCV001289384RCV001393117
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) SNV
Germline		 Chr7:143321837 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_761601545

3 SubmittersRCV001296750RCV003145518RCV004799641
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) SNV
Germline		 Chr7:143341995 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_762754992

3 SubmittersRCV001312154RCV003883175RCV003770636
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) SNV
Germline		 Chr7:143342494 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1803111906

4 SubmittersRCV001312155RCV001871788RCV002290687
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) SNV
Germline		 Chr7:143324468 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_757109632

1 SubmittersRCV001339411
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) SNV
Germline		 Chr7:143330831 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1802702027

1 SubmittersRCV001343192
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) SNV
Germline		 Chr7:143332752 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_375292685

2 SubmittersRCV001341884RCV003145587
NM_000083.3(CLCN1):c.980-3C>G SNV
Germline		 Chr7:143331229 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1802714707

4 SubmittersRCV001371931RCV001726491RCV002290697
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) SNV
Germline		 Chr7:143351691 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_149188892

3 SubmittersRCV001372906RCV002550928
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) SNV
Germline		 Chr7:143316311 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_138922145

1 SubmittersRCV001381379
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) SNV
Germline		 Chr7:143323338 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757481015

3 SubmittersRCV001382410RCV001780315
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) SNV
Germline		 Chr7:143332487 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1279658001

2 SubmittersRCV001382412RCV002251767
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) SNV
Germline		 Chr7:143339301 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1312002847

3 SubmittersRCV001382413RCV002473287RCV003339629
NM_000083.3(CLCN1):c.1472-2A>G SNV
Germline		 Chr7:143339509 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_2116865174

1 SubmittersRCV001384830
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) SNV
Germline		 Chr7:143332488 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2116854694

2 SubmittersRCV001477836RCV001561399
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) SNV
Germline		 Chr7:143324430 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_2116842824

2 SubmittersRCV001528181RCV001873731
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) SNV
Germline		 Chr7:143323383 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1802495428

4 SubmittersRCV001531062RCV002267638RCV003771642
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) SNV
Germline		 Chr7:143332495 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1023099235

4 SubmittersRCV001551532RCV002221631RCV003771688
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) SNV
Germline		 Chr7:143342043 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
not specified		 Criteria Provided
Conflicting Classifications
 rs_2116373070

4 SubmittersRCV001727427RCV001882795RCV003230692
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) SNV
Germline		 Chr7:143316259 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_769092535

2 SubmittersRCV001868856RCV004546671
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) SNV
Germline		 Chr7:143324468 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757109632

3 SubmittersRCV001780789RCV002544260
NM_000083.3(CLCN1):c.697-1G>C SNV
Germline		 Chr7:143323308 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_773025750

2 SubmittersRCV001780791RCV003772148
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) SNV
Germline		 Chr7:143332782 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 rs_563423438

2 SubmittersRCV001786835RCV002074089
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) SNV
Germline		 Chr7:143342461 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1009716258

3 SubmittersRCV001824196RCV001885370RCV002292668
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) SNV
Germline		 Chr7:143332736 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_889073641

2 SubmittersRCV002010109RCV003146459
NM_000083.3(CLCN1):c.1401+1G>A SNV
Germline		 Chr7:143332874 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_769861892

1 SubmittersRCV001994597
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter) SNV
Germline		 Chr7:143321770 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_1563074540

1 SubmittersRCV001908749
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) SNV
Germline		 Chr7:143324414 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2116842799

2 SubmittersRCV001934760RCV004527434
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) SNV
Germline		 Chr7:143339619 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 rs_1319653705

2 SubmittersRCV001976009RCV004690205
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) SNV
Germline		 Chr7:143345762 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_753308829

1 SubmittersRCV002002953
NM_000083.3(CLCN1):c.2595+1G>A SNV
Germline		 Chr7:143350655 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_2116397860

1 SubmittersRCV001895672
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) SNV
Germline		 Chr7:143332770 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1486868849

1 SubmittersRCV001942970
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) SNV
Germline		 Chr7:143330868 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_80356702

1 SubmittersRCV002040519
NM_000083.3(CLCN1):c.1931-1G>C SNV
Germline		 Chr7:143345520 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_2116383424

1 SubmittersRCV002040619
NM_000083.3(CLCN1):c.854-2A>G SNV
Germline		 Chr7:143330770 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_1802699135

1 SubmittersRCV001982088
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) SNV
Germline		 Chr7:143350402 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_772150974

4 SubmittersRCV001980223RCV002290823RCV003154051
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) SNV
Germline		 Chr7:143321721 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_746401512

1 SubmittersRCV002003761
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) SNV
Germline		 Chr7:143321723 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_2116838394

1 SubmittersRCV001965898
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) SNV
Germline		 Chr7:143342485 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_2116374801

1 SubmittersRCV001952828
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) SNV
Germline		 Chr7:143321374 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 rs_2116837535

1 SubmittersRCV001886549
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) SNV
Germline		 Chr7:143345648 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1417174086

2 SubmittersRCV002251167RCV003774733
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr) SNV
Germline		 Chr7:143320757 Likely pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_775224495

1 SubmittersRCV002267652
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala) SNV
Germline		 Chr7:143341961 Likely pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_1474851853

1 SubmittersRCV002267655
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) SNV
Germline		 Chr7:143321796 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 rs_2116838620

2 SubmittersRCV002267656RCV002267657RCV003096074
NM_000083.3(CLCN1):c.938C>T (p.Ala313Val) SNV
Germline		 Chr7:143330856 Pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_2116852322

1 SubmittersRCV002267658
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn) SNV
Germline		 Chr7:143331235 Likely pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 rs_780421370

1 SubmittersRCV002267660
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu) SNV
Germline		 Chr7:143330836 Pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV002290325
NM_000083.3(CLCN1):c.825C>T (p.Val275=) SNV
Germline		 Chr7:143324464 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002475034RCV003775544
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg) SNV
Germline		 Chr7:143321750 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003062144
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val) SNV
Germline		 Chr7:143324448 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003062145
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe) SNV
Germline		 Chr7:143342003 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062146RCV004765635
NM_000083.3(CLCN1):c.2365-1G>A SNV
Germline		 Chr7:143346910 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003087024
NM_000083.3(CLCN1):c.2509-2A>C SNV
Germline		 Chr7:143350566 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV002586067
NM_000083.3(CLCN1):c.1582+1G>A SNV
Germline		 Chr7:143339622 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV002819478
NM_000083.3(CLCN1):c.2284+1G>A SNV
Germline		 Chr7:143346252 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV002806528
NM_000083.3(CLCN1):c.1471+1G>T SNV
Germline		 Chr7:143339323 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV002851617
NM_000083.3(CLCN1):c.2508+1G>A SNV
Germline		 Chr7:143350477 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV002880261
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu) SNV
Germline		 Chr7:143332770 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV002998957
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile) SNV
Germline		 Chr7:143323318 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003042499RCV004536537
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter) SNV
Germline		 Chr7:143319783 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003024358
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=) SNV
Germline		 Chr7:143351938 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003144996RCV003778837
NM_000083.3(CLCN1):c.2365-1G>T SNV
Germline		 Chr7:143346910 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003141464RCV003989820
NM_000083.3(CLCN1):c.1583-13T>A SNV
Germline		 Chr7:143341916 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003232979RCV003779845
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro) SNV
Germline		 Chr7:143342454 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003777392RCV003331823
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr) SNV
Unknown		 Chr7:143330787 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003334472
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn) SNV
Germline		 Chr7:143321845 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003785599
NM_000083.3(CLCN1):c.433+1G>A SNV
Germline		 Chr7:143320796 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003785682
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala) SNV
Germline		 Chr7:143321730 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003785964
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala) SNV
Germline		 Chr7:143341953 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003786318
NM_000083.3(CLCN1):c.1796+1G>A SNV
Germline		 Chr7:143342143 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003784218
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe) SNV
Germline		 Chr7:143342012 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003793528
NM_000083.3(CLCN1):c.302-2A>C SNV
Germline		 Chr7:143320662 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781071
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly) SNV
Germline		 Chr7:143320712 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781072
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg) SNV
Germline		 Chr7:143321421 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781073
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys) SNV
Germline		 Chr7:143324421 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781074
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile) SNV
Germline		 Chr7:143330777 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781076
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr) SNV
Germline		 Chr7:143331243 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781077
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val) SNV
Germline		 Chr7:143332496 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781078
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu) SNV
Germline		 Chr7:143341952 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003781079RCV004701828
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His) SNV
Germline		 Chr7:143342045 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781081
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter) SNV
Germline		 Chr7:143346656 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781085
NM_000083.3(CLCN1):c.2403+1G>A SNV
Germline		 Chr7:143346950 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781086
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter) SNV
Germline		 Chr7:143320773 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781262
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter) SNV
Germline		 Chr7:143321381 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003781377
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter) SNV
Germline		 Chr7:143350435 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003795550
NM_000083.3(CLCN1):c.2172+1G>C SNV
Germline		 Chr7:143345763 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003779404
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser) SNV
Germline		 Chr7:143331243 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Metachromatic leukodystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003782655RCV004527008RCV004542250
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val) SNV
Germline		 Chr7:143330811 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV003786629
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter) SNV
Germline		 Chr7:143339258 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003792651
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys) SNV
Germline		 Chr7:143339305 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003798341
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter) SNV
Germline		 Chr7:143330884 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003792282
NM_000083.3(CLCN1):c.354G>A (p.Gly118=) SNV
Germline		 Chr7:143320716 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003799800
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter) SNV
Germline		 Chr7:143341988 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003799050
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter) SNV
Germline		 Chr7:143316339 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003805267
NM_000083.3(CLCN1):c.980-2A>G SNV
Germline		 Chr7:143331230 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003800918
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro) SNV
Germline		 Chr7:143345533 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003796914RCV004723482
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr7:143316231 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003794847
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu) SNV
Germline		 Chr7:143339523 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003797318
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter) SNV
Germline		 Chr7:143351673 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003807150
NM_000083.3(CLCN1):c.1252-1G>T SNV
Germline		 Chr7:143332723 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003802215
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter) SNV
Germline		 Chr7:143324422 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003809743
NM_000083.3(CLCN1):c.434-1G>A SNV
Germline		 Chr7:143321364 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003809899
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter) SNV
Germline		 Chr7:143332431 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003812342
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg) SNV
Germline		 Chr7:143324492 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV003810401
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter) SNV
Germline		 Chr7:143350609 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003988680
NM_000083.3(CLCN1):c.860T>C (p.Leu287Pro) SNV
Germline		 Chr7:143330778 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003990441
NM_000083.3(CLCN1):c.2038A>T (p.Lys680Ter) SNV
Germline		 Chr7:143345628 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003991127
NM_000083.3(CLCN1):c.1472G>A (p.Gly491Glu) SNV
Germline		 Chr7:143339511 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003991898
NM_000083.3(CLCN1):c.2364+2T>C SNV
Germline		 Chr7:143346660 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV004527494
NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu) SNV
Germline		 Chr7:143332727 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV004527495
NM_000083.3(CLCN1):c.946T>A (p.Phe316Ile) SNV
Germline		 Chr7:143330864 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter

1 SubmittersRCV004698946