Total 401 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
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Tip-toe gait
CLCN1-related disorder
Skeletal muscle channelopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258010 rs_121912799

19 SubmittersRCV000019083RCV000184008RCV000346725RCV000638232RCV001548747RCV002291268RCV006555331
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 SubmittersRCV000019084RCV000020113RCV000291823RCV000627758RCV003317041RCV004532391
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) SNV
Germline		 Chr7:143339527 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258016 rs_121912801

7 SubmittersRCV000019087RCV000692794RCV001781281RCV004532392
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 SubmittersRCV000019089RCV000020101RCV001237767
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 SubmittersRCV000019090RCV000020103RCV000498537RCV000685420RCV001253100
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 SubmittersRCV000019091RCV000020117RCV000626584RCV000690053RCV000711241RCV001196224RCV004528125
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) SNV
Germline		 Chr7:143330789 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258022 rs_121912805

9 SubmittersRCV000019093RCV001041229RCV001781282RCV002468557
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 SubmittersRCV000019094RCV000019095RCV000020121RCV000516960RCV000626585RCV000763169
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) SNV
Germline		 Chr7:143339534 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258026 rs_121912807

4 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
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 SubmittersRCV000019099RCV000019098RCV000020107RCV000292791RCV000627759RCV000626582RCV001564017RCV001794458RCV001813999RCV004737160RCV005428993
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 SubmittersRCV000019100RCV000020109RCV001049292RCV005630706
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) SNV
Germline		 Chr7:143331265 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341533 rs_80356703

8 SubmittersRCV000517885RCV000638255RCV003322591RCV003338385RCV003335049
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) SNV
Germline		 Chr7:143339289 Pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 CA341537 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 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 SubmittersRCV000020102RCV000638249RCV000711222RCV002267607
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) SNV
Germline		 Chr7:143342013 Pathogenic/Likely 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
 CA341541 rs_80356697

4 SubmittersRCV001224306RCV001826481RCV003137538
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) SNV
Germline		 Chr7:143321729 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
 CA341547 rs_80356686

4 SubmittersRCV001208684RCV003144110RCV004700258
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) SNV
Germline		 Chr7:143321744 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
 CA341549 rs_80356685

4 SubmittersRCV000545021RCV000517112RCV006554442
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) SNV
Germline		 Chr7:143324442 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
 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
 CA341553 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 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 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 recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341559 rs_80356691

7 SubmittersRCV000020119RCV000516849RCV001823101RCV002514123RCV004700259
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) SNV
Germline		 Chr7:143330855 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
 CA341561 rs_80356692

11 SubmittersRCV000224894RCV000638231RCV001196602RCV003883120
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 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 dominant form
Congenital myotonia, autosomal recessive 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

20 SubmittersRCV000191068RCV000191070RCV000415172RCV000479583RCV000556194RCV000711233RCV001753591
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 SubmittersRCV000239241RCV000404319RCV000513813RCV000660618RCV001086594RCV005890980RCV005890979
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 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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537075 rs_776073429

8 SubmittersRCV000254934RCV000305146RCV000543122RCV005250044
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 SubmittersRCV000342021RCV000638257RCV000778823RCV001589311RCV004737396
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) SNV
Germline		 Chr7:143330772 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Smith-Lemli-Opitz syndrome
Tip-toe gait
CLCN1-related disorder
Skeletal muscle channelopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537163 rs_150885084

14 SubmittersRCV000305463RCV000560216RCV001753743RCV003319192RCV004535246RCV006547941
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 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA4537004 rs_369773321

9 SubmittersRCV000530513RCV000711236RCV005246925
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 SubmittersRCV000513242RCV001084293RCV001161643RCV004701391
NM_000083.3(CLCN1):c.180+3A>T SNV
Germline		 Chr7:143316395 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
Skeletal muscle channelopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536844 rs_202217420

18 SubmittersRCV000484389RCV000763167RCV000995506RCV002464158RCV005860059
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 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 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 SubmittersRCV000279484RCV000518175RCV000638263RCV001712348RCV005625564
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 SubmittersRCV000368010RCV000711230RCV000700433RCV005625565
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 SubmittersRCV000402752RCV000991821RCV002519502
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 SubmittersRCV000792000RCV000998933RCV001161535RCV003319210RCV003994119RCV004800587
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 SubmittersRCV000391740RCV002524524
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 SubmittersRCV000356921RCV003766064
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 SubmittersRCV000361953RCV000442751RCV000711240RCV001257057RCV004530446
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 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 dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4536913 rs_756353660

5 SubmittersRCV000263405RCV000536073RCV001571296RCV004022040
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 SubmittersRCV000381389RCV000710099RCV001086283RCV004544687
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) SNV
Germline		 Chr7:143323319 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications
 CA16618364 rs_1064794643

3 SubmittersRCV000484110RCV001053739RCV006452672
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

4 SubmittersRCV000711220RCV001088318RCV004999523
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) SNV
Germline		 Chr7:143331264 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
 CA16621861 rs_759761559

8 SubmittersRCV000488375RCV000701179RCV001030775
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) SNV
Germline		 Chr7:143331583 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369642146 rs_1085307989

3 SubmittersRCV000489990RCV006556084
NM_000083.3(CLCN1):c.853+17C>A SNV
Germline		 Chr7:143324509 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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 dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537282 rs_756199349

7 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

4 SubmittersRCV000494185RCV001387794RCV002289680
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) SNV
Germline		 Chr7:143330825 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369686764 rs_746691295

4 SubmittersRCV000518447RCV000815779RCV003323583RCV005409666
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) SNV
Germline		 Chr7:143324450 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369687538 rs_1554435334

3 SubmittersRCV000517249RCV002525026RCV005901111
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) SNV
Germline		 Chr7:143324465 Conflicting classifications of pathogenicity not specified
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537128 rs_765181341

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

7 SubmittersRCV000517685RCV001851431RCV001814177RCV002227481RCV004787821
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) SNV
Germline		 Chr7:143330826 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
 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 dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369641691 rs_1337473924

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

8 SubmittersRCV000517879RCV000638252RCV004737585RCV004787822
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
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537214 rs_767000881

6 SubmittersRCV000516411RCV000527543RCV002227480RCV006270389
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

6 SubmittersRCV000517902RCV000695020RCV004535670
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) SNV
Germline		 Chr7:143332733 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
 CA4537307 rs_756981034

4 SubmittersRCV000518336RCV001857897RCV003330738
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 dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4537308 rs_780834658

8 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

5 SubmittersRCV000516613RCV001060222RCV003485596
NM_000083.3(CLCN1):c.1471+1G>A SNV
Germline		 Chr7:143339323 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
 CA4537382 rs_375596425

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

5 SubmittersRCV000517072RCV001049002RCV003338626
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) SNV
Germline		 Chr7:143342094 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA4537461 rs_747895358

4 SubmittersRCV000706509RCV001644600RCV003323582
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) SNV
Germline		 Chr7:143342451 Pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive 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 dominant form
Congenital myotonia, autosomal recessive 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 dominant form
Congenital myotonia, autosomal recessive form
Colon adenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537751 rs_771721648

7 SubmittersRCV000522584RCV000813032RCV005901170
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 SubmittersRCV000711231RCV000798907RCV001161762RCV003883154RCV006458458
NM_000083.3(CLCN1):c.1167-10T>C SNV
Germline		 Chr7:143332409 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537269 rs_543120965

12 SubmittersRCV000540290RCV000711215RCV000987989RCV003992320
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) SNV
Germline		 Chr7:143321715 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369684215 rs_1554434857

2 SubmittersRCV000532409RCV005407708
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) SNV
Germline		 Chr7:143319794 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant 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
Congenital myotonia, autosomal recessive form
Condition: not provided
RASopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536880 rs_759188441

4 SubmittersRCV000558306RCV004525964RCV004760566RCV004541677
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) SNV
Germline		 Chr7:143350387 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant 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.1222C>G (p.Pro408Ala) SNV
Germline		 Chr7:143332474 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA4537280 rs_202019723

7 SubmittersRCV000592862RCV001368637RCV005898699
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) SNV
Germline		 Chr7:143316225 Conflicting classifications of pathogenicity not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant 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 dominant form
Congenital myotonia, autosomal recessive 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 dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4536828 rs_185031797

4 SubmittersRCV000638251RCV000714895RCV000714896RCV002473080
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
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537375 rs_746125212

9 SubmittersRCV000019088RCV000810078RCV000657922RCV003989574
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) SNV
Germline		 Chr7:143320771 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Tip-toe gait
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536926 rs_748639603

6 SubmittersRCV000692856RCV000991825RCV003319405RCV006633941
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) SNV
Germline		 Chr7:143346186 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537593 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
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537731 rs_749205522

7 SubmittersRCV000706396RCV001824155RCV001289382RCV005409727
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
 CA168214377 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
 CA369645384 rs_1380726444

4 SubmittersRCV000685629RCV001756153
NM_000083.3(CLCN1):c.2172+1G>T SNV
Germline		 Chr7:143345763 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369650847 rs_1273524525

5 SubmittersRCV000693331RCV001091924
NM_000083.3(CLCN1):c.2285-1G>C SNV
Germline		 Chr7:143346578 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369652182 rs_1222525763

1 SubmittersRCV000695019
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) SNV
Germline		 Chr7:143351720 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537773 rs_146862992

3 SubmittersRCV000689675RCV006342479
NM_000083.3(CLCN1):c.302-1G>A SNV
Germline		 Chr7:143320663 Pathogenic/Likely 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
 CA4536911 rs_529377088

4 SubmittersRCV000700752RCV002289981RCV003489824
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) SNV
Germline		 Chr7:143339295 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
 CA369645380 rs_746125212

4 SubmittersRCV000691722RCV004997160RCV005056436
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 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
 CA369684421 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
 CA369641591 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 recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369641943 rs_1282349760

6 SubmittersRCV000711214RCV002289993RCV001861958
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
 CA168214305 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 recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA168214578 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
 CA369645945 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
 CA4537511 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
Skeletal muscle channelopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537067 rs_561470261

5 SubmittersRCV000760440RCV001223937RCV006250222
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) SNV
Germline		 Chr7:143350587 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369653163 rs_1563090141

3 SubmittersRCV000762485RCV001855956RCV003319419
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) SNV
Germline		 Chr7:143323375 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA4537073 rs_746691295

2 SubmittersRCV000784894RCV000784895RCV002535707
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) SNV
Germline		 Chr7:143323386 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Abnormality of the musculature
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537074 rs_770605959

6 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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369683546 rs_1586485406

3 SubmittersRCV000819257RCV003319212RCV005409750
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
Multiple Submitters
No Conflicts
 CA4536967 rs_771532474

2 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
 CA369686025 rs_1586486170

3 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
 CA369686339 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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537072 rs_772027125

4 SubmittersRCV000822037RCV001836901RCV006257323
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) SNV
Germline		 Chr7:143324451 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA369687541 rs_1475869303

2 SubmittersRCV000814953RCV005801892
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
 CA168258821 rs_921162119

2 SubmittersRCV000821657RCV001091921
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) SNV
Germline		 Chr7:143330877 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
 CA369641709 rs_1478129213

6 SubmittersRCV000809623RCV000991831RCV005056582
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 SubmittersRCV000800361RCV001836890RCV005438035
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
 CA369646526 rs_1586510615

2 SubmittersRCV000823200RCV004768705
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) SNV
Germline		 Chr7:143342130 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369646777 rs_1586510870

2 SubmittersRCV000791909RCV005243361
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 SubmittersRCV000794383RCV001163173
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) SNV
Germline		 Chr7:143345541 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA4537521 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537797 rs_139659129

7 SubmittersRCV000876537RCV001546134RCV004530851RCV005540206
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 SubmittersRCV001165162RCV001433251RCV003320775
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) SNV
Germline		 Chr7:143339517 Pathogenic/Likely 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
 CA4537403 rs_770900468

8 SubmittersRCV000987990RCV001212828RCV002269327
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) SNV
Germline		 Chr7:143323309 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
CLCN1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168257695 rs_139039122

6 SubmittersRCV000991827RCV000995507RCV002549767RCV004528326
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) SNV
Germline		 Chr7:143351643 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537759 rs_745329674

4 SubmittersRCV001071809RCV000991822
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
 CA369650154 rs_1417174086

3 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
 CA369641498 rs_1266327660

1 SubmittersRCV001036751
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) SNV
Germline		 Chr7:143332499 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369643606 rs_1360333956

2 SubmittersRCV001069020RCV004782639
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) SNV
Germline		 Chr7:143332771 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369643974 rs_1802763171

1 SubmittersRCV001062860
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) SNV
Germline		 Chr7:143339619 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369645982 rs_1319653705

1 SubmittersRCV001067338
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) SNV
Germline		 Chr7:143341988 Pathogenic/Likely 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
 CA4537442 rs_546411827

4 SubmittersRCV001067172RCV004689977RCV004584848
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
 CA4537444 rs_778647317

2 SubmittersRCV001047235RCV003323787
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) SNV
Germline		 Chr7:143342131 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537468 rs_376321837

2 SubmittersRCV001069532
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) SNV
Germline		 Chr7:143342500 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
 CA369648179 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
 CA369650827 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
 CA4537641 rs_117661165

2 SubmittersRCV001057097RCV003363086
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) SNV
Germline		 Chr7:143346657 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4537646 rs_199610988

3 SubmittersRCV001040281RCV004720045
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) SNV
Germline		 Chr7:143351783 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537785 rs_143075418

4 SubmittersRCV001040990RCV003145268RCV004031234
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) SNV
Germline		 Chr7:143351831 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537796 rs_774199742

2 SubmittersRCV001066318RCV002554488
NM_000083.3(CLCN1):c.2172+1G>A SNV
Germline		 Chr7:143345763 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
 CA369650840 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 recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369645930 rs_1460714146

4 SubmittersRCV001091922RCV001862702RCV002267630
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) SNV
Germline		 Chr7:143331262 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369641829 rs_1802715644

2 SubmittersRCV001257324RCV005036404
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 SubmittersRCV001161644RCV003769774
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 SubmittersRCV001163171RCV001358944RCV003323800RCV004800707
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 SubmittersRCV001163174RCV003769787
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 SubmittersRCV001161761RCV005225247RCV005005057
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 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
 CA168214108 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
 CA458284698 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
 CA369645358 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
 CA369646543 rs_1269268607

4 SubmittersRCV001203792RCV002245868RCV002267633RCV002267634
NM_000083.3(CLCN1):c.181-2A>G SNV
Germline		 Chr7:143319753 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369678849 rs_1802376231

1 SubmittersRCV001212715
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) SNV
Germline		 Chr7:143330834 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
 CA369641617 rs_1802702190

3 SubmittersRCV001230055RCV001780164RCV005408763
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
 CA369650185 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
 CA4537701 rs_755343536

1 SubmittersRCV001257255
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) SNV
Germline		 Chr7:143319836 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4536879 rs_147581794

3 SubmittersRCV001240665RCV001587269
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) SNV
Germline		 Chr7:143339289 Likely pathogenic Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369645355 rs_80356695

2 SubmittersRCV001253400RCV005437042
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) SNV
Germline		 Chr7:143339607 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications
 CA369645934 rs_1460714146

5 SubmittersRCV001664789RCV001262904RCV005236746
NM_000083.3(CLCN1):c.563-8G>A SNV
Germline		 Chr7:143321707 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA4537001 rs_763640926

2 SubmittersRCV001289384RCV001393117
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) SNV
Germline		 Chr7:143331313 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369641939 rs_1682810737

3 SubmittersRCV001288919RCV002537983RCV005225358
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) SNV
Germline		 Chr7:143321837 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
 CA4537035 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 dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369646480 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 dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369648153 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
 CA369687574 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
 CA369641610 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
 CA4537314 rs_375292685

2 SubmittersRCV001341884RCV003145587
NM_000083.3(CLCN1):c.563-9C>A SNV
Germline		 Chr7:143321706 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
 CA4537000 rs_201404573

3 SubmittersRCV001371371RCV004820196RCV005601770
NM_000083.3(CLCN1):c.980-3C>G SNV
Germline		 Chr7:143331229 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
 CA2499218772 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
 CA4537770 rs_149188892

3 SubmittersRCV001372906RCV002550928
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) SNV
Germline		 Chr7:143316311 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369677082 rs_138922145

1 SubmittersRCV001381379
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) SNV
Germline		 Chr7:143323338 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537065 rs_757481015

4 SubmittersRCV001382410RCV001780315
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) SNV
Germline		 Chr7:143332487 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369643516 rs_1279658001

2 SubmittersRCV001382412RCV002251767
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) SNV
Germline		 Chr7:143339301 Pathogenic/Likely 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
 CA369645393 rs_1312002847

3 SubmittersRCV001382413RCV002473287RCV003339629
NM_000083.3(CLCN1):c.1472-2A>G SNV
Germline		 Chr7:143339509 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369645512 rs_2116865174

1 SubmittersRCV001384830
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) SNV
Germline		 Chr7:143332488 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA458281455 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 recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369687500 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 recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369686805 rs_1802495428

4 SubmittersRCV001531062RCV002267638RCV003771642
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) SNV
Germline		 Chr7:143332495 Conflicting classifications of pathogenicity Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA168214027 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 recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA369646582 rs_2116373070

4 SubmittersRCV001727427RCV001882795RCV005920591
NM_000083.3(CLCN1):c.697-1G>A SNV
Germline		 Chr7:143323308 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369686244 rs_773025750

2 SubmittersRCV001780509RCV005209556
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
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536806 rs_769092535

3 SubmittersRCV001868856RCV004546671RCV005630284
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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537130 rs_757109632

4 SubmittersRCV001780789RCV002544260RCV005057616
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly) SNV
Germline		 Chr7:143321425 Conflicting classifications of pathogenicity Condition: not provided
not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369683661 rs_1586485438

3 SubmittersRCV001780790RCV004801048RCV006557716
NM_000083.3(CLCN1):c.697-1G>C SNV
Germline		 Chr7:143323308 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4537055 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
 CA4537319 rs_563423438

2 SubmittersRCV001786835RCV002074089
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) SNV
Germline		 Chr7:143342461 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168224806 rs_1009716258

4 SubmittersRCV005409839RCV001824196RCV002292668RCV001885370
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) SNV
Germline		 Chr7:143332736 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA168214308 rs_889073641

3 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
 CA369644432 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
 CA369684582 rs_1563074540

1 SubmittersRCV001908749
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) SNV
Germline		 Chr7:143332830 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4537331 rs_754440141

2 SubmittersRCV002010283RCV005804464
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) SNV
Germline		 Chr7:143324414 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369687461 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
 CA369645980 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
Multiple Submitters
No Conflicts
 CA4537560 rs_753308829

2 SubmittersRCV002002953
NM_000083.3(CLCN1):c.2595+1G>A SNV
Germline		 Chr7:143350655 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369653389 rs_2116397860

2 SubmittersRCV001895672RCV006437098
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) SNV
Germline		 Chr7:143332770 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369643968 rs_1486868849

2 SubmittersRCV001942970RCV006280789
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
 CA369641692 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
 CA369649288 rs_2116383424

1 SubmittersRCV002040619
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) SNV
Germline		 Chr7:143332502 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA369643625 rs_1288398919

3 SubmittersRCV001906596RCV005370026RCV005238053
NM_000083.3(CLCN1):c.854-2A>G SNV
Germline		 Chr7:143330770 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369641484 rs_1802699135

1 SubmittersRCV001982088
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) SNV
Germline		 Chr7:143350402 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
 CA4537686 rs_772150974

5 SubmittersRCV001980223RCV003154051RCV002290823
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) SNV
Germline		 Chr7:143321721 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369684245 rs_746401512

1 SubmittersRCV002003761
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) SNV
Germline		 Chr7:143321723 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369684256 rs_2116838394

1 SubmittersRCV001965898
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) SNV
Germline		 Chr7:143342485 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369648074 rs_2116374801

1 SubmittersRCV001952828
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) SNV
Germline		 Chr7:143321374 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369683333 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
 CA369650151 rs_1417174086

2 SubmittersRCV002251167RCV003774733
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr) SNV
Germline		 Chr7:143320757 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369682562 rs_775224495

3 SubmittersRCV002267652RCV005241494RCV006558720
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala) SNV
Germline		 Chr7:143341961 Likely pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 CA369646405 rs_1474851853

1 SubmittersRCV002267655
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) SNV
Germline		 Chr7:143321796 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
 CA369684802 rs_2116838620

2 SubmittersRCV002267656RCV002267657RCV003096074
NM_000083.3(CLCN1):c.938C>T (p.Ala313Val) SNV
Germline		 Chr7:143330856 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Skeletal muscle channelopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369641667 rs_2116852322

3 SubmittersRCV002267658RCV005239340RCV006451787
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn) SNV
Germline		 Chr7:143331235 Likely pathogenic Congenital myotonia, autosomal dominant form No Assertion Criteria Provided
 CA369641771 rs_780421370

1 SubmittersRCV002267660
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu) SNV
Germline		 Chr7:143342019 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369646529 rs_1803091318

3 SubmittersRCV002288278RCV006558763
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu) SNV
Germline		 Chr7:143330836 Pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter
 CA369641622 rs_2487057516

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 dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications
 CA168258833 rs_947251147

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
 CA369684451 rs_1563074523

1 SubmittersRCV003062144
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val) SNV
Germline		 Chr7:143324448 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369687537 rs_1490537212

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
 CA369646495 rs_1333207710

2 SubmittersRCV003062146RCV004765635
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly) SNV
Germline		 Chr7:143342121 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA168221759 rs_200536855

3 SubmittersRCV003067198RCV003074619RCV005636707
NM_000083.3(CLCN1):c.2365-1G>A SNV
Germline		 Chr7:143346910 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369652358 rs_1803265151

1 SubmittersRCV003087024
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser) SNV
Germline		 Chr7:143319833 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA369680855 rs_1394098762

2 SubmittersRCV002595556RCV005804716
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
 CA369653118 rs_2485444714

1 SubmittersRCV002586067
NM_000083.3(CLCN1):c.1582+1G>A SNV
Germline		 Chr7:143339622 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA168219874 rs_755211647

1 SubmittersRCV002819478
NM_000083.3(CLCN1):c.2284+1G>A SNV
Germline		 Chr7:143346252 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369651591 rs_2485436810

1 SubmittersRCV002806528
NM_000083.3(CLCN1):c.1471+1G>T SNV
Germline		 Chr7:143339323 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369645472 rs_375596425

1 SubmittersRCV002851617
NM_000083.3(CLCN1):c.2508+1G>A SNV
Germline		 Chr7:143350477 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369652694 rs_2485444450

3 SubmittersRCV002880261RCV005409894RCV006281075
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu) SNV
Germline		 Chr7:143332770 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369643971 rs_1486868849

1 SubmittersRCV002998957
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val) SNV
Germline		 Chr7:143330772 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369641489 rs_150885084

2 SubmittersRCV003002570RCV005406553
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile) SNV
Germline		 Chr7:143323318 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4537058 rs_776173406

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
 CA369679065 rs_769312894

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 recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA458542657 rs_2485449460

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
 CA369652360 rs_1803265151

2 SubmittersRCV003141464RCV003989820
NM_000083.3(CLCN1):c.2284+1G>T SNV
Germline		 Chr7:143346252 Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369651586 rs_2485436810

2 SubmittersRCV003141468RCV006561076
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
 CA2580614277 rs_2487089731

2 SubmittersRCV003232979RCV003779845
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro) SNV
Germline		 Chr7:143342454 Conflicting classifications of pathogenicity not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA4537502 rs_202231290

2 SubmittersRCV003331823RCV003777392
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr) SNV
Unknown		 Chr7:143330787 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter
 CA369641520 rs_2487056938

1 SubmittersRCV003334472
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter) SNV
Germline		 Chr7:143332736 Pathogenic Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369643749 rs_889073641

2 SubmittersRCV003482654RCV005216128
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn) SNV
Germline		 Chr7:143321845 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369686033 rs_2487034267

1 SubmittersRCV003785599
NM_000083.3(CLCN1):c.433+1G>A SNV
Germline		 Chr7:143320796 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168254596 rs_1056856929

2 SubmittersRCV003785682RCV005637041
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala) SNV
Germline		 Chr7:143321730 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369684299 rs_1802442027

1 SubmittersRCV003785964
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala) SNV
Germline		 Chr7:143341953 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369646388 rs_1175929008

2 SubmittersRCV003786318RCV005648309
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
 CA369646843 rs_1192056840

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
 CA369646513 rs_2487090280

1 SubmittersRCV003793528
NM_000083.3(CLCN1):c.302-2A>C SNV
Germline		 Chr7:143320662 Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536910 rs_762272849

3 SubmittersRCV003781071RCV005631236
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly) SNV
Germline		 Chr7:143320712 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369682126 rs_1224227320

2 SubmittersRCV003781072
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg) SNV
Germline		 Chr7:143321421 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369683630 rs_1802429044

1 SubmittersRCV003781073
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys) SNV
Germline		 Chr7:143324421 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA168258795 rs_200621976

3 SubmittersRCV003781074RCV005254870
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile) SNV
Germline		 Chr7:143330777 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369641496 rs_1802699644

1 SubmittersRCV003781076
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr) SNV
Germline		 Chr7:143331243 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369641787 rs_2487058978

1 SubmittersRCV003781077
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val) SNV
Germline		 Chr7:143332496 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369643585 rs_2116854732

1 SubmittersRCV003781078
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu) SNV
Germline		 Chr7:143341952 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369646385 rs_777685454

3 SubmittersRCV003781079RCV005934889
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His) SNV
Germline		 Chr7:143342045 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369646583 rs_2487090418

1 SubmittersRCV003781081
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter) SNV
Germline		 Chr7:143346656 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA4537645 rs_765393777

1 SubmittersRCV003781085
NM_000083.3(CLCN1):c.2403+1G>A SNV
Germline		 Chr7:143346950 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA4537668 rs_761916322

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
 CA369682736 rs_773806167

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
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369683373 rs_56307536

2 SubmittersRCV003781377RCV005871311
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
 CA369652607 rs_2485444292

1 SubmittersRCV003795550
NM_000083.3(CLCN1):c.2172+1G>C SNV
Germline		 Chr7:143345763 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter
 CA369650842 rs_1273524525

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
 CA369641786 rs_2487058978

3 SubmittersRCV003782655RCV004527008RCV004542250
NM_000083.3(CLCN1):c.1796+7G>C SNV
Germline		 Chr7:143342149 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified		 Criteria Provided
Conflicting Classifications
 CA2579050871 rs_1237574012

2 SubmittersRCV003780293RCV005063164
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
 CA369641571 rs_1802700924

1 SubmittersRCV003786629
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter) SNV
Germline		 Chr7:143339258 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369645227 rs_2487082521

1 SubmittersRCV003792651
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys) SNV
Germline		 Chr7:143339305 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369645402 rs_1586507590

1 SubmittersRCV003798341
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter) SNV
Germline		 Chr7:143330884 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369641721 rs_1441448091

1 SubmittersRCV003792282
NM_000083.3(CLCN1):c.354G>A (p.Gly118=) SNV
Germline		 Chr7:143320716 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA458293530 rs_2487029590

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
 CA369646463 rs_546411827

1 SubmittersRCV003799050
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter) SNV
Germline		 Chr7:143316339 Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4536826 rs_563275093

2 SubmittersRCV003805267RCV005409963
NM_000083.3(CLCN1):c.980-2A>G SNV
Germline		 Chr7:143331230 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369641761 rs_1197125822

1 SubmittersRCV003800918
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro) SNV
Germline		 Chr7:143345533 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA168226427 rs_142994455

2 SubmittersRCV003796914RCV004723482
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr7:143316231 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369676406 rs_2487015049

1 SubmittersRCV003794847
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu) SNV
Germline		 Chr7:143339523 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369645564 rs_1255229981

1 SubmittersRCV003797318
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys) SNV
Germline		 Chr7:143345538 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369649408 rs_1181586555

1 SubmittersRCV003800212
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter) SNV
Germline		 Chr7:143351673 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369653585 rs_1291473151

1 SubmittersRCV003807150
NM_000083.3(CLCN1):c.1252-1G>T SNV
Germline		 Chr7:143332723 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369643676 rs_1802760935

1 SubmittersRCV003802215
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter) SNV
Germline		 Chr7:143324422 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369687479 rs_1285179667

1 SubmittersRCV003809743
NM_000083.3(CLCN1):c.434-1G>A SNV
Germline		 Chr7:143321364 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369683257 rs_2487031771

1 SubmittersRCV003809899
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter) SNV
Germline		 Chr7:143332431 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter
 CA369643165 rs_1554436799

1 SubmittersRCV003812342
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg) SNV
Germline		 Chr7:143324492 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369687623 rs_1802528906

2 SubmittersRCV003810401RCV006437231
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter) SNV
Germline		 Chr7:143350609 Likely pathogenic Congenital myotonia, autosomal dominant form Criteria Provided
Single Submitter
 CA369653224 rs_775384507

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
 CA369641499 rs_1266327660

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
 CA369650048 rs_2485435041

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
 CA369645518 rs_2487083724

1 SubmittersRCV003991898
NM_000083.3(CLCN1):c.311A>G (p.His104Arg) SNV
Germline		 Chr7:143320673 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Conflicting Classifications
 CA369681657 rs_1563073737

2 SubmittersRCV004444235RCV005220894
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
 CA369652353 rs_886041384

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
 CA369643695 rs_2487064604

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
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp) SNV
Germline		 Chr7:143350635 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004701151RCV005038791
NM_000083.3(CLCN1):c.37C>T (p.Gln13Ter) SNV
Germline		 Chr7:143316249 Pathogenic/Likely pathogenic Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004721942RCV006565154
NM_000083.3(CLCN1):c.180+1G>A SNV
Germline		 Chr7:143316393 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005047880
NM_000083.3(CLCN1):c.202C>T (p.Gln68Ter) SNV
Germline		 Chr7:143319776 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005047882
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter) SNV
Germline		 Chr7:143319871 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005047883
NM_000083.3(CLCN1):c.1582+5G>A SNV
Germline		 Chr7:143339626 Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033654RCV005410006
NM_000083.3(CLCN1):c.1937T>C (p.Met646Thr) SNV
Germline		 Chr7:143345527 Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005214232RCV006451541
NM_000083.3(CLCN1):c.288T>G (p.Tyr96Ter) SNV
Germline		 Chr7:143319862 Pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV005215210
NM_000083.3(CLCN1):c.696+1G>A SNV
Germline		 Chr7:143321849 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005221212
NM_000083.3(CLCN1):c.871G>C (p.Glu291Gln) SNV
Germline		 Chr7:143330789 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005221214
NM_000083.3(CLCN1):c.1938G>A (p.Met646Ile) SNV
Germline		 Chr7:143345528 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221215RCV005407421
NM_000083.3(CLCN1):c.562+2T>G SNV
Germline		 Chr7:143321495 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005221427
NM_000083.3(CLCN1):c.1246G>A (p.Gly416Arg) SNV
Germline		 Chr7:143332498 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005216826
NM_000083.3(CLCN1):c.1064+2T>C SNV
Germline		 Chr7:143331318 Likely pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005226429
NM_000083.3(CLCN1):c.1931-1G>A SNV
Germline		 Chr7:143345520 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV005214022
NM_000083.3(CLCN1):c.2479C>T (p.Gln827Ter) SNV
Germline		 Chr7:143350447 Pathogenic Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form		 Criteria Provided
Single Submitter

1 SubmittersRCV005214569
NM_000083.3(CLCN1):c.1167-2A>C SNV
Germline		 Chr7:143332417 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV006591421
NM_000083.3(CLCN1):c.301+2T>G SNV
Germline		 Chr7:143319877 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV006598957
NM_000083.3(CLCN1):c.645G>T (p.Lys215Asn) SNV
Germline		 Chr7:143321797 Likely pathogenic Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form		 Criteria Provided
Single Submitter

1 SubmittersRCV006599271