Total 131 pathogenic variants reported for Eichsfeld type congenital muscular dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) SNV
Germline		 Chr1:25809096 Pathogenic Eichsfeld type congenital muscular dystrophy No Assertion Criteria Provided
 CA253166 rs_121908182

1 SubmittersRCV000004746
NM_020451.2(SELENON):c.1385G>A (p.Sec462=) SNV
Germline		 Chr1:25812790 Pathogenic Eichsfeld type congenital muscular dystrophy No Assertion Criteria Provided
 CA253167 rs_587776597

1 SubmittersRCV000004747
NM_020451.3(SELENON):c.1A>G (p.Met1Val) SNV
Germline		 Chr1:25800231 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253168 rs_121908184

6 SubmittersRCV000004748RCV000482307RCV002288464RCV002504747
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV
Germline		 Chr1:25813890 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Muscular dystrophy
Cleft lip/palate		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253170 rs_121908185

14 SubmittersRCV000004749RCV000413832RCV000778977RCV001195543RCV005624672
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) SNV
Germline		 Chr1:25812763 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA253171 rs_121908186

2 SubmittersRCV000004750
NM_020451.3(SELENON):c.1384T>G SNV
Germline		 Chr1:25812789 Pathogenic Eichsfeld type congenital muscular dystrophy No Assertion Criteria Provided
 CA253173 rs_121908187

1 SubmittersRCV000004752
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) SNV
Germline		 Chr1:25809753 Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
Congenital myopathy 4A, autosomal dominant
Eichsfeld type congenital muscular dystrophy
SELENON-related myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223589 rs_121908188

26 SubmittersRCV000004754RCV000004753RCV000082020RCV000681664RCV000778235RCV003224794RCV003993737
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) SNV
Germline		 Chr1:25800333 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA223578 rs_398124359

10 SubmittersRCV000558595RCV000723675RCV001097299RCV001329140RCV003162515RCV003398680
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) SNV
Germline		 Chr1:25812720 Pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223582 rs_377215510

9 SubmittersRCV000082011RCV000792332RCV001197254
NM_020451.3(SELENON):c.1596C>T (p.Gly532=) SNV
Germline		 Chr1:25814172 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder		 Criteria Provided
Conflicting Classifications
 CA223584 rs_149623434

5 SubmittersRCV000723580RCV001088210RCV003945025
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) SNV
Germline		 Chr1:25815599 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
not specified		 Criteria Provided
Conflicting Classifications
 CA223586 rs_200128474

10 SubmittersRCV000542565RCV000723596RCV001097379RCV001329142RCV003398681
NM_020451.3(SELENON):c.1428G>A (p.Ser476=) SNV
Germline		 Chr1:25813921 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA239647 rs_41284305

5 SubmittersRCV000724226RCV001086102RCV001101132RCV005434671
NM_020451.3(SELENON):c.872+2T>C SNV
Germline		 Chr1:25809152 Pathogenic/Likely pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275352 rs_794727808

2 SubmittersRCV000179510RCV002516794
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) SNV
Germline		 Chr1:25811694 Pathogenic/Likely pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275449 rs_794727976

2 SubmittersRCV000180670RCV002516827
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) SNV
Germline		 Chr1:25805153 Conflicting classifications of pathogenicity not specified
Condition: not provided
SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA207149 rs_201692549

9 SubmittersRCV000193575RCV000725931RCV001097302RCV000543024RCV002492881
NM_020451.3(SELENON):c.81C>T (p.Arg27=) SNV
Germline		 Chr1:25800311 Conflicting classifications of pathogenicity not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10586734 rs_886038660

3 SubmittersRCV000242137RCV000873512RCV001753727
NM_020451.3(SELENON):c.465G>A (p.Thr155=) SNV
Germline		 Chr1:25805203 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696511 rs_753774853

4 SubmittersRCV000547825RCV000253793RCV000584991
NM_020451.3(SELENON):c.729G>A (p.Pro243=) SNV
Germline		 Chr1:25808771 Conflicting classifications of pathogenicity not specified
SEPN1-related disorder
Condition: not provided
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder		 Criteria Provided
Conflicting Classifications
 CA696606 rs_139020143

6 SubmittersRCV000250797RCV000292421RCV000725590RCV001081584RCV003891962
NM_020451.3(SELENON):c.732G>A (p.Pro244=) SNV
Germline		 Chr1:25808774 Conflicting classifications of pathogenicity not specified
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA696609 rs_200765195

3 SubmittersRCV000242126RCV000951535RCV001099052
NM_020451.3(SELENON):c.1602+14C>T SNV
Germline		 Chr1:25814192 Conflicting classifications of pathogenicity not specified
SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696930 rs_41284307

4 SubmittersRCV000247113RCV000260150RCV002058293
NM_020451.3(SELENON):c.1710G>A (p.Thr570=) SNV
Germline		 Chr1:25815655 Conflicting classifications of pathogenicity not specified
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696972 rs_371398538

4 SubmittersRCV000243251RCV000893098RCV001097380RCV001557483
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) SNV
Germline		 Chr1:25809150 Pathogenic/Likely pathogenic Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696660 rs_199564797

9 SubmittersRCV000358099RCV000791286RCV000800896RCV003985311
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) SNV
Germline		 Chr1:25815660 Conflicting classifications of pathogenicity not specified
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder		 Criteria Provided
Conflicting Classifications
 CA696975 rs_183272965

7 SubmittersRCV000340120RCV000723478RCV000765103RCV001083468RCV003920033
NM_020451.3(SELENON):c.7C>A (p.Arg3=) SNV
Germline		 Chr1:25800237 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA10606958 rs_866566089

2 SubmittersRCV000259857RCV001086966
NM_020451.3(SELENON):c.1110G>A (p.Thr370=) SNV
Germline		 Chr1:25811708 Conflicting classifications of pathogenicity SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696767 rs_779080942

2 SubmittersRCV000406505RCV000873164
NM_020451.3(SELENON):c.1704G>A (p.Pro568=) SNV
Germline		 Chr1:25815649 Conflicting classifications of pathogenicity SEPN1-related disorder
not specified
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696969 rs_754350384

3 SubmittersRCV000277904RCV000615602RCV001469690
NM_020451.3(SELENON):c.1623C>T (p.Asn541=) SNV
Germline		 Chr1:25815568 Conflicting classifications of pathogenicity SEPN1-related disorder
not specified
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696960 rs_199911454

4 SubmittersRCV000317644RCV000422681RCV000636858
NM_020451.3(SELENON):c.878A>G (p.His293Arg) SNV
Germline		 Chr1:25809688 Conflicting classifications of pathogenicity SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696675 rs_776738184

5 SubmittersRCV000349806RCV002520484
NM_020451.3(SELENON):c.1638C>T (p.Ile546=) SNV
Germline		 Chr1:25815583 Conflicting classifications of pathogenicity not specified
Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696963 rs_201066183

3 SubmittersRCV000439056RCV000636860RCV001084680
NM_020451.3(SELENON):c.1500+7G>A SNV
Germline		 Chr1:25814000 Conflicting classifications of pathogenicity SEPN1-related disorder
Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696889 rs_200724231

3 SubmittersRCV001101133RCV001704392RCV000876107
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) SNV
Germline		 Chr1:25813920 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy
not specified		 Criteria Provided
Conflicting Classifications
 CA696878 rs_368377980

7 SubmittersRCV000497945RCV000811605RCV002265784
NM_020451.3(SELENON):c.1603-14G>A SNV
Germline		 Chr1:25815534 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA696955 rs_370300935

2 SubmittersRCV000523179RCV002060273
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) SNV
Germline		 Chr1:25808707 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339112027 rs_1553120047

1 SubmittersRCV000545759
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) SNV
Germline		 Chr1:25813899 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA19699053 rs_779162837

4 SubmittersRCV000551007
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) SNV
Germline		 Chr1:25800232 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA339105612 rs_1174570887

2 SubmittersRCV000541651
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) SNV
Germline		 Chr1:25813962 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA19699056 rs_960468382

3 SubmittersRCV000535222RCV000591683
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) SNV
Germline		 Chr1:25809693 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy
not specified		 Criteria Provided
Conflicting Classifications
 CA19698565 rs_978886878

5 SubmittersRCV000592718RCV001867977RCV004767431
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) SNV
Germline		 Chr1:25809731 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339114664 rs_1553120202

1 SubmittersRCV000636857
NM_020451.3(SELENON):c.2T>C (p.Met1Thr) SNV
Germline		 Chr1:25800232 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339105610 rs_1174570887

1 SubmittersRCV000636853
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) SNV
Germline		 Chr1:25800396 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA339106289 rs_1557814050

2 SubmittersRCV000696370
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) SNV
Germline		 Chr1:25812780 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA696841 rs_760063405

2 SubmittersRCV000698272
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) SNV
Germline		 Chr1:25813898 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696874 rs_756927098

4 SubmittersRCV000692095RCV001584567
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) SNV
Germline		 Chr1:25811710 Conflicting classifications of pathogenicity Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases		 Criteria Provided
Conflicting Classifications
 CA696769 rs_745886248

7 SubmittersRCV000713178RCV000791287RCV001861985RCV003985417
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) SNV
Germline		 Chr1:25809080 Pathogenic/Likely pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696646 rs_368074297

7 SubmittersRCV001093411RCV000814481
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) SNV
Germline		 Chr1:25809149 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696659 rs_757446463

4 SubmittersRCV000819498RCV004702455
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) SNV
Germline		 Chr1:25811778 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA696789 rs_747284477

3 SubmittersRCV000822846
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) SNV
Germline		 Chr1:25812784 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696842 rs_767530943

5 SubmittersRCV000794147RCV004526024RCV004696994
NM_020451.3(SELENON):c.873-2A>G SNV
Germline		 Chr1:25809681 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy Criteria Provided
Conflicting Classifications
 CA339114404 rs_1176143542

3 SubmittersRCV000814509
NM_020451.3(SELENON):c.1501-1G>A SNV
Germline		 Chr1:25814076 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy Criteria Provided
Conflicting Classifications
 CA696909 rs_750138587

3 SubmittersRCV000815877
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) SNV
Germline		 Chr1:25805219 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696513 rs_778603129

5 SubmittersRCV001039378RCV001732020
NM_020451.3(SELENON):c.*1107T>C SNV
Germline		 Chr1:25816825 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA416760007 rs_2048015293

2 SubmittersRCV001047138RCV004702600
NM_020451.3(SELENON):c.1010+1G>A SNV
Germline		 Chr1:25809821 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA19698586 rs_908682527

3 SubmittersRCV001039380
NM_020451.3(SELENON):c.957C>T (p.Leu319=) SNV
Germline		 Chr1:25809767 Conflicting classifications of pathogenicity SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA416759189 rs_377537585

2 SubmittersRCV001099053RCV002067753
NM_020451.3(SELENON):c.538-1G>A SNV
Germline		 Chr1:25808579 Likely pathogenic Eichsfeld type congenital muscular dystrophy
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339111336 rs_2047928865

2 SubmittersRCV001377599RCV001197253
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) SNV
Germline		 Chr1:25802086 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy Criteria Provided
Conflicting Classifications
 CA19693714 rs_934913626

2 SubmittersRCV001216012
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) SNV
Germline		 Chr1:25808607 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696566 rs_775713184

5 SubmittersRCV001224095RCV003156323
NM_020451.3(SELENON):c.1602+1G>A SNV
Germline		 Chr1:25814179 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy Criteria Provided
Conflicting Classifications
 CA696927 rs_751927853

2 SubmittersRCV001207653
NM_020451.3(SELENON):c.404-1G>A SNV
Germline		 Chr1:25805141 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339109752 rs_1005071009

1 SubmittersRCV001237547
NM_020451.3(SELENON):c.872+1G>A SNV
Germline		 Chr1:25809151 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339114319 rs_2047936719

2 SubmittersRCV001251099
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) SNV
Germline		 Chr1:25814150 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy Criteria Provided
Conflicting Classifications
 CA696923 rs_761631813

4 SubmittersRCV001326195
NM_020451.3(SELENON):c.1387+1G>A SNV
Unknown		 Chr1:25812793 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA339117893 rs_2047977957

2 SubmittersRCV001329141
NM_020451.3(SELENON):c.538-1G>C SNV
Germline		 Chr1:25808579 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339111339 rs_2047928865

1 SubmittersRCV001379243
NM_020451.3(SELENON):c.1011-1G>C SNV
Germline		 Chr1:25811453 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA339116059 rs_1333001112

2 SubmittersRCV001379388
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) SNV
Germline		 Chr1:25813889 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA696871 rs_752156505

5 SubmittersRCV001933139RCV002463070
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter) SNV
Germline		 Chr1:25800390 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339106260 rs_2047850525

1 SubmittersRCV002002358
NM_020451.3(SELENON):c.402G>A (p.Leu134=) SNV
Germline		 Chr1:25802116 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696479 rs_759256016

2 SubmittersRCV002042970RCV002464509
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter) SNV
Germline		 Chr1:25808614 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339111573 rs_2047929645

1 SubmittersRCV001943491
NM_020451.3(SELENON):c.2T>A (p.Met1Lys) SNV
Germline		 Chr1:25800232 Pathogenic/Likely pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339105607 rs_1174570887

2 SubmittersRCV002276349RCV004596532
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) SNV
Germline		 Chr1:25809095 Pathogenic/Likely pathogenic Condition: not provided
Eichsfeld type congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339113882 rs_2124448034

5 SubmittersRCV002275929RCV002290859
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter) SNV
Germline		 Chr1:25811787 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339117189 rs_2524994791

1 SubmittersRCV003085918
NM_020451.3(SELENON):c.651G>A (p.Leu217=) SNV
Germline		 Chr1:25808693 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA696591 rs_752169625

2 SubmittersRCV002715843RCV004584979
NM_020451.3(SELENON):c.1282-1G>T SNV
Germline		 Chr1:25812686 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339117664 rs_1289523206

1 SubmittersRCV003025615
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter) SNV
Germline		 Chr1:25811820 Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA339117381 rs_777659233

2 SubmittersRCV003153120
NM_020451.3(SELENON):c.302-1G>C SNV
Germline		 Chr1:25802015 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA339107440 rs_2524960860

1 SubmittersRCV003504386
NM_020451.3(SELENON):c.59C>T (p.Pro20Leu) SNV
Germline		 Chr1:25800289 Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA19693140 rs_1050852336

3 SubmittersRCV003503341RCV004371432RCV005250315
NM_020451.3(SELENON):c.1282-13G>A SNV
Germline		 Chr1:25812674 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter
 CA696819 rs_770106849

1 SubmittersRCV003883428
NM_020451.3(SELENON):c.302-1G>A SNV
Germline		 Chr1:25802015 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005026404
NM_020451.3(SELENON):c.1384T>C SNV
Germline		 Chr1:25812789 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005088316
NM_020451.3(SELENON):c.301+2T>C SNV
Germline		 Chr1:25801162 Pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005207605
NM_020451.3(SELENON):c.944G>A (p.Gly315Asp) SNV
Germline		 Chr1:25809754 Likely pathogenic Eichsfeld type congenital muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005431244