Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)	SNV Germline	Chr8:143924012	Pathogenic	Epidermolysis bullosa simplex, Ogna type Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Simplex epidermolysis bullosa_Ogna type	Criteria Provided Multiple Submitters No Conflicts	CA340759	rs_80338756	8 SubmittersRCV000008751 RCV000519116 RCV001381863 RCV001352838
NM_201384.3(PLEC):c.832C>T (p.Gln278Ter)	SNV Germline	Chr8:143934923	Pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia	No Assertion Criteria Provided	CA249458	rs_137853160	1 SubmittersRCV000008753
NM_201384.3(PLEC):c.1263G>A (p.Ser421=)	SNV Germline	Chr8:143933998	Pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia	No Assertion Criteria Provided	CA278584	rs_864309672	1 SubmittersRCV000008754
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)	SNV Germline	Chr8:143920817	Pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Single Submitter	CA249467	rs_137853161	2 SubmittersRCV000008755 RCV001851744
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)	SNV Germline	Chr8:143923055	Pathogenic	Epidermolysis bullosa simplex 5B, with muscular dystrophy Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA249711	rs_387906802	5 SubmittersRCV000023092 RCV001007967 RCV002273816 RCV001387924
NM_201384.3(PLEC):c.946-6T>C	SNV Germline	Chr8:143934736	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA220835	rs_200168705	2 SubmittersRCV000078831 RCV001078660
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)	SNV Germline	Chr8:143919404	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA220836	rs_201765507	6 SubmittersRCV000723747 RCV001088568 RCV004537313
NM_201384.3(PLEC):c.10656G>A (p.Val3552=)	SNV Germline	Chr8:143919165	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA220845	rs_368312695	4 SubmittersRCV000078834 RCV001088523 RCV004542753
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)	SNV Germline	Chr8:143931575	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases PLEC-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA220864	rs_200173947	6 SubmittersRCV000078852 RCV000873584 RCV002513828 RCV004537316 RCV004706478
NM_201384.3(PLEC):c.3111C>T (p.Gly1037=)	SNV Germline	Chr8:143929252	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA220874	rs_398123397	2 SubmittersRCV000078855 RCV002514386
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)	SNV Germline	Chr8:143925373	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA220883	rs_182120395	9 SubmittersRCV000078868 RCV000544997 RCV001086335 RCV004737185
NM_201384.3(PLEC):c.4707G>A (p.Thr1569=)	SNV Germline	Chr8:143925222	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA220892	rs_398123398	2 SubmittersRCV000078872 RCV002514387
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)	SNV Germline	Chr8:143923999	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA220937	rs_398123401	6 SubmittersRCV000078884 RCV000554019 RCV002514388 RCV004700388
NM_201384.3(PLEC):c.7821C>T (p.Ala2607=)	SNV Germline	Chr8:143922000	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA220955	rs_398123402	2 SubmittersRCV000078894 RCV000534108
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)	SNV Germline	Chr8:143917206	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA154407	rs_202116866	6 SubmittersRCV000117950 RCV000726487 RCV001087438
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)	SNV Germline	Chr8:143975237	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA154434	rs_201820569	5 SubmittersRCV000117953 RCV000558023 RCV000725963
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)	SNV Germline	Chr8:143922068	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA234643	rs_200488179	6 SubmittersRCV000710177 RCV001079339 RCV004737237
NM_201384.3(PLEC):c.12858G>A (p.Thr4286=)	SNV Germline	Chr8:143916963	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA234598	rs_782480281	2 SubmittersRCV000153731 RCV001850103
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=)	SNV Germline	Chr8:143919462	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA234625	rs_782140099	3 SubmittersRCV000153734 RCV001393749 RCV004532731
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)	SNV Germline	Chr8:143921991	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA234634	rs_376112916	6 SubmittersRCV000712761 RCV001087716 RCV004544402
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)	SNV Germline	Chr8:143925711	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA234661	rs_782584192	3 SubmittersRCV000153740 RCV000723925 RCV001505852
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)	SNV Germline	Chr8:143930278	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA234688	rs_202135215	6 SubmittersRCV000725198 RCV001083079
NM_201384.3(PLEC):c.933C>T (p.Phe311=)	SNV Germline	Chr8:143934822	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA239120	rs_369363676	3 SubmittersRCV000173689 RCV001504088
NM_201384.3(PLEC):c.1050G>A (p.Val350=)	SNV Germline	Chr8:143934437	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA239748	rs_74461721	2 SubmittersRCV000174247 RCV001089305
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)	SNV Germline	Chr8:143934329	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA239757	rs_201667254	9 SubmittersRCV000174248 RCV001721103 RCV002516622 RCV000559452 RCV004537363
NM_201384.3(PLEC):c.1461G>A (p.Glu487=)	SNV Germline	Chr8:143933069	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA240441	rs_782426400	3 SubmittersRCV000174849 RCV002056925
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)	SNV Germline	Chr8:143932985	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA240450	rs_199968254	4 SubmittersRCV000725385 RCV001087346
NM_201384.3(PLEC):c.2237G>A (p.Arg746His)	SNV Germline	Chr8:143931601	Conflicting classifications of pathogenicity	Condition: not provided not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA201489	rs_200887085	5 SubmittersRCV000999100 RCV000175499 RCV000555489
NM_201384.3(PLEC):c.2604C>T (p.Ala868=)	SNV Germline	Chr8:143930152	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA242149	rs_201827413	3 SubmittersRCV000176267 RCV001450221
NM_201384.3(PLEC):c.2458-8C>T	SNV Germline	Chr8:143930306	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA242158	rs_201818691	5 SubmittersRCV000712728 RCV001080184
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)	SNV Germline	Chr8:143930205	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA242168	rs_200647397	6 SubmittersRCV000712729 RCV001089444 RCV004539634
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)	SNV Germline	Chr8:143929725	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA242402	rs_200482255	8 SubmittersRCV000176458 RCV000725509 RCV001086698
NM_201384.3(PLEC):c.2748C>T (p.Thr916=)	SNV Germline	Chr8:143929821	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA242411	rs_372942259	2 SubmittersRCV000176459 RCV001080178
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)	SNV Germline	Chr8:143929517	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA201975	rs_534045685	5 SubmittersRCV000176531 RCV000648652 RCV001697162 RCV003165369 RCV004537405
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)	SNV Germline	Chr8:143927435	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA242919	rs_187648086	6 SubmittersRCV000176847 RCV000547452 RCV000724976 RCV004737269
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)	SNV Germline	Chr8:143927546	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA202134	rs_146685404	6 SubmittersRCV000176848 RCV000874343 RCV001288289 RCV002517703 RCV004737270
NM_201384.3(PLEC):c.174+10G>A	SNV Germline	Chr8:143938621	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia not specified	Criteria Provided Conflicting Classifications	CA243174	rs_181850748	3 SubmittersRCV000177068 RCV001088787 RCV001289141
NM_201384.3(PLEC):c.3948C>T (p.Tyr1316=)	SNV Germline	Chr8:143926880	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA243703	rs_782715020	2 SubmittersRCV000177514 RCV002054093
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)	SNV Germline	Chr8:143922662	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA202537	rs_193257576	10 SubmittersRCV000177598 RCV000712756 RCV001086675 RCV004537437
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)	SNV Germline	Chr8:143925090	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA243804	rs_554561043	3 SubmittersRCV000177580 RCV002054098 RCV004537438
NM_201384.3(PLEC):c.4581G>A (p.Ala1527=)	SNV Germline	Chr8:143925348	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA243813	rs_782459694	2 SubmittersRCV000177581 RCV002054099
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)	SNV Germline	Chr8:143923143	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243831	rs_373922545	7 SubmittersRCV000177583 RCV000712754 RCV001088713
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)	SNV Germline	Chr8:143925405	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy not specified	Criteria Provided Conflicting Classifications	CA243840	rs_370168097	6 SubmittersRCV000727685 RCV001087481 RCV001706135
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)	SNV Germline	Chr8:143924538	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder not specified	Criteria Provided Conflicting Classifications	CA243858	rs_551187778	6 SubmittersRCV000725527 RCV001086331 RCV004537439 RCV004998379
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)	SNV Germline	Chr8:143925853	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA243885	rs_574482100	7 SubmittersRCV000415901 RCV001199099 RCV001088471 RCV004737272
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)	SNV Germline	Chr8:143923707	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243894	rs_370347438	4 SubmittersRCV000724805 RCV001087368
NM_201384.3(PLEC):c.6303G>A (p.Glu2101=)	SNV Germline	Chr8:143923626	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA243939	rs_781833947	2 SubmittersRCV000177609 RCV001088939
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)	SNV Germline	Chr8:143924133	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243948	rs_375568532	5 SubmittersRCV000725386 RCV001079141
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)	SNV Germline	Chr8:143922735	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243957	rs_541134948	3 SubmittersRCV000177611 RCV001088128
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)	SNV Germline	Chr8:143924905	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA243966	rs_370569372	9 SubmittersRCV000545545 RCV000724193 RCV003987424
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)	SNV Germline	Chr8:143925696	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243975	rs_2855760	4 SubmittersRCV000724191 RCV001085664
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)	SNV Germline	Chr8:143923335	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA243984	rs_144242254	8 SubmittersRCV000177614 RCV000585322 RCV001084155
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)	SNV Germline	Chr8:143922546	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243993	rs_371673069	5 SubmittersRCV000705315 RCV000724247 RCV002516743
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)	SNV Germline	Chr8:143923393	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244002	rs_117962829	6 SubmittersRCV000554395 RCV000724990 RCV002517719 RCV004537440
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)	SNV Germline	Chr8:143922867	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy not specified PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244011	rs_375587611	6 SubmittersRCV000724225 RCV001083171 RCV004700540 RCV004737273
NM_201384.3(PLEC):c.7188G>A (p.Gln2396=)	SNV Germline	Chr8:143922741	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244029	rs_374517570	2 SubmittersRCV000177619 RCV001433609
NM_201384.3(PLEC):c.6162C>T (p.His2054=)	SNV Germline	Chr8:143923767	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA202564	rs_563719398	5 SubmittersRCV000177620 RCV000528561 RCV001704845
NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met)	SNV Germline	Chr8:143924056	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244047	rs_200715520	4 SubmittersRCV000177622 RCV001085671
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)	SNV Germline	Chr8:143923981	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244056	rs_527947459	4 SubmittersRCV000177623 RCV001088197 RCV004955300
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)	SNV Germline	Chr8:143922828	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244065	rs_202132558	4 SubmittersRCV000177624 RCV001082061 RCV004737274
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)	SNV Germline	Chr8:143924458	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 1 Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244092	rs_542642242	9 SubmittersRCV000177628 RCV000785605 RCV001086527 RCV001704846 RCV002516745 RCV004537442
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)	SNV Germline	Chr8:143923731	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244101	rs_201574539	5 SubmittersRCV000177629 RCV000724739 RCV001083891 RCV004537443
NM_201384.3(PLEC):c.8607G>A (p.Glu2869=)	SNV Germline	Chr8:143921214	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244195	rs_200819891	2 SubmittersRCV000177677 RCV001088452
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)	SNV Germline	Chr8:143916750	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA244226	rs_202153947	4 SubmittersRCV000177685 RCV001078550
NM_201384.3(PLEC):c.13533C>T (p.Ser4511=)	SNV Germline	Chr8:143916288	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244235	rs_782669579	2 SubmittersRCV000177686 RCV002054100
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)	SNV Germline	Chr8:143921315	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244253	rs_200814155	8 SubmittersRCV000723606 RCV001082916 RCV004537445 RCV004020114
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)	SNV Germline	Chr8:143919323	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244271	rs_200541837	5 SubmittersRCV000177690 RCV000537688 RCV001704847 RCV004737276
NM_201384.3(PLEC):c.10533C>G (p.Gly3511=)	SNV Germline	Chr8:143919288	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244280	rs_782720434	2 SubmittersRCV000177691 RCV003765096
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)	SNV Germline	Chr8:143921770	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 1 Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244298	rs_200239963	7 SubmittersRCV000177693 RCV000725505 RCV000785606 RCV001080318 RCV004528946
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)	SNV Germline	Chr8:143920488	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA244307	rs_188739870	8 SubmittersRCV000177694 RCV000512985 RCV001082161
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)	SNV Germline	Chr8:143917631	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244316	rs_200206105	7 SubmittersRCV000177695 RCV000724010 RCV001083840 RCV004737277
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)	SNV Germline	Chr8:143918614	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA244352	rs_77146441	6 SubmittersRCV000557331 RCV000585029
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)	SNV Germline	Chr8:143918492	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244361	rs_538589589	7 SubmittersRCV000177700 RCV000546144 RCV002516747
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)	SNV Germline	Chr8:143919614	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244397	rs_542488020	5 SubmittersRCV000177704 RCV001218004 RCV003278679
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=)	SNV Germline	Chr8:143918097	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244415	rs_374595008	3 SubmittersRCV000177706 RCV001450635 RCV004737279
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)	SNV Germline	Chr8:143916534	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244424	rs_782581005	3 SubmittersRCV000177707 RCV000724724 RCV001430462
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)	SNV Germline	Chr8:143919408	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA244433	rs_782728053	3 SubmittersRCV000533228 RCV000724524
NM_201384.3(PLEC):c.9567G>A (p.Pro3189=)	SNV Germline	Chr8:143920254	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244442	rs_367761849	2 SubmittersRCV000177709 RCV001475027
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)	SNV Germline	Chr8:143920787	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244451	rs_200898220	6 SubmittersRCV000177710 RCV000648559 RCV000724970 RCV004537446
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)	SNV Germline	Chr8:143921204	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244460	rs_377748878	4 SubmittersRCV000177711 RCV000724581 RCV000799044 RCV004955301
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)	SNV Germline	Chr8:143920772	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244469	rs_201041716	6 SubmittersRCV000177712 RCV000537168 RCV003165372
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)	SNV Germline	Chr8:143916843	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244487	rs_781832846	3 SubmittersRCV000177714 RCV001078561 RCV004537447
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)	SNV Germline	Chr8:143920346	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244496	rs_201030020	6 SubmittersRCV000712767 RCV001087645 RCV002516748
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)	SNV Germline	Chr8:143917150	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244523	rs_368212208	6 SubmittersRCV000177718 RCV000526784 RCV003362714
NM_201384.3(PLEC):c.7911G>A (p.Ala2637=)	SNV Germline	Chr8:143921910	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244550	rs_372688821	2 SubmittersRCV000177721 RCV002054101
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)	SNV Germline	Chr8:143918248	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA244559	rs_373863249	5 SubmittersRCV000177722 RCV001078692 RCV004737280
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)	SNV Germline	Chr8:143916710	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA244577	rs_200361523	7 SubmittersRCV000540878 RCV000725165 RCV002516749 RCV004700541
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)	SNV Germline	Chr8:143921999	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244622	rs_199995144	6 SubmittersRCV000724784 RCV000816099 RCV002517720
NM_201384.3(PLEC):c.9153C>T (p.Ser3051=)	SNV Germline	Chr8:143920668	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA244631	rs_200231367	2 SubmittersRCV000177730 RCV001089403
NM_201384.3(PLEC):c.46C>T (p.Arg16Ter)	SNV Germline	Chr8:143939416	Pathogenic	Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Multiple Submitters No Conflicts	CA249859	rs_374419983	3 SubmittersRCV000186559 RCV001092984 RCV003338451
NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr)	SNV Germline	Chr8:143923616	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA207236	rs_781931836	3 SubmittersRCV000193631 RCV000724939 RCV001088606
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)	SNV Germline	Chr8:143924168	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA208198	rs_201278290	5 SubmittersRCV000194194 RCV000513011 RCV001087077
NM_201384.3(PLEC):c.6921G>A (p.Leu2307=)	SNV Germline	Chr8:143923008	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA10603822	rs_886044772	2 SubmittersRCV000374824 RCV001436349
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)	SNV Germline	Chr8:143923324	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925932	rs_201928401	5 SubmittersRCV000725397 RCV001227994 RCV002521870
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)	SNV Germline	Chr8:143920976	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925162	rs_202241157	5 SubmittersRCV000317893 RCV000648499 RCV000725398 RCV002519086
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)	SNV Germline	Chr8:143932422	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927778	rs_190470017	5 SubmittersRCV000362885 RCV000724833 RCV001083617 RCV004542976
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)	SNV Germline	Chr8:143918297	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924328	rs_187011732	5 SubmittersRCV000278084 RCV000725153 RCV001086289 RCV004542977
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)	SNV Germline	Chr8:143921161	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925226	rs_201655861	6 SubmittersRCV000335436 RCV000724835 RCV001083618 RCV004021074 RCV004542978
NM_201384.3(PLEC):c.12876G>A (p.Val4292=)	SNV Germline	Chr8:143916945	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923960	rs_199509259	4 SubmittersRCV000373869 RCV000724836 RCV001088533 RCV004535254
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)	SNV Germline	Chr8:143918896	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924497	rs_782531580	5 SubmittersRCV000576206 RCV000724841
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)	SNV Germline	Chr8:143925483	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926655	rs_782202249	5 SubmittersRCV000375878 RCV000712740 RCV001078715
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)	SNV Germline	Chr8:143916639	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923893	rs_373958891	4 SubmittersRCV000370598 RCV001087386 RCV004542980
NM_201384.3(PLEC):c.381C>T (p.Asp127=)	SNV Germline	Chr8:143937033	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4928463	rs_185041864	2 SubmittersRCV000327519 RCV001463044
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)	SNV Germline	Chr8:143925342	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926607	rs_369723574	3 SubmittersRCV000294849 RCV001087502 RCV004535257
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)	SNV Germline	Chr8:143924442	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926347	rs_781998103	4 SubmittersRCV000724890 RCV001088980
NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val)	SNV Germline	Chr8:143921620	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4925398	rs_200202579	6 SubmittersRCV000347875 RCV000543307 RCV004535261 RCV004021081 RCV001718569
NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)	SNV Germline	Chr8:143918210	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924292	rs_201419047	5 SubmittersRCV000319680 RCV000545914 RCV001705406 RCV002518827
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)	SNV Germline	Chr8:143917346	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924076	rs_201069314	6 SubmittersRCV000300593 RCV001087007 RCV004542991 RCV004021085
NM_201384.3(PLEC):c.772C>T (p.Leu258=)	SNV Germline	Chr8:143935064	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4928321	rs_372233686	3 SubmittersRCV000305848 RCV000726201 RCV001081249
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)	SNV Germline	Chr8:143919105	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924555	rs_34365303	3 SubmittersRCV000724943 RCV001087284
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)	SNV Germline	Chr8:143924702	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926400	rs_781946435	7 SubmittersRCV000724944 RCV001082726
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)	SNV Germline	Chr8:143916474	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923834	rs_368660987	5 SubmittersRCV000264142 RCV000724963 RCV001426930 RCV004021090 RCV004535265
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)	SNV Germline	Chr8:143917977	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924233	rs_782025071	5 SubmittersRCV000298250 RCV000724975 RCV001088775 RCV004021091
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)	SNV Germline	Chr8:143930279	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927503	rs_369344419	5 SubmittersRCV000389873 RCV001082840
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)	SNV Germline	Chr8:143921022	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925181	rs_371751910	3 SubmittersRCV000288479 RCV001080537
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)	SNV Germline	Chr8:143924598	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926389	rs_774270631	5 SubmittersRCV000725003 RCV001069615
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)	SNV Germline	Chr8:143920263	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924931	rs_201102719	4 SubmittersRCV000309430 RCV001085355 RCV004535269
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)	SNV Germline	Chr8:143917038	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923980	rs_377524932	3 SubmittersRCV000290169 RCV001086872 RCV004535273
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)	SNV Germline	Chr8:143930176	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927471	rs_782468518	3 SubmittersRCV000347306 RCV001467658
NM_201384.3(PLEC):c.2661C>T (p.His887=)	SNV Germline	Chr8:143930014	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4927425	rs_782806801	2 SubmittersRCV000310025 RCV001497674
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)	SNV Germline	Chr8:143916312	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923772	rs_190789703	5 SubmittersRCV000325469 RCV001084111 RCV004535275
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)	SNV Germline	Chr8:143929486	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927262	rs_376276993	3 SubmittersRCV000316140 RCV001079291 RCV004535277
NM_201384.3(PLEC):c.11164C>T (p.Leu3722=)	SNV Germline	Chr8:143918657	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924416	rs_375598997	2 SubmittersRCV000276485 RCV001081015
NM_201384.3(PLEC):c.11910G>A (p.Gln3970=)	SNV Germline	Chr8:143917911	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924220	rs_782710557	2 SubmittersRCV000324550 RCV001080655
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)	SNV Germline	Chr8:143922808	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925751	rs_201417343	8 SubmittersRCV000271394 RCV000702838 RCV001331247
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)	SNV Germline	Chr8:143919300	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924622	rs_201905804	3 SubmittersRCV000264887 RCV001086942 RCV004535280
NM_201384.3(PLEC):c.4626G>A (p.Arg1542=)	SNV Germline	Chr8:143925303	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926600	rs_782125781	2 SubmittersRCV000351670 RCV003765592
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)	SNV Germline	Chr8:143922294	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy not specified	Criteria Provided Conflicting Classifications	CA4925595	rs_782605503	3 SubmittersRCV000265742 RCV001088180 RCV004999205
NM_201384.3(PLEC):c.1263+8G>A	SNV Germline	Chr8:143933990	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604172	rs_545715431	2 SubmittersRCV000288206 RCV001084877
NM_201384.3(PLEC):c.1263+7G>C	SNV Germline	Chr8:143933991	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4928077	rs_564072063	2 SubmittersRCV000339821 RCV001082651
NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)	SNV Germline	Chr8:143927878	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA10604173	rs_782733038	3 SubmittersRCV000275640 RCV001491406
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)	SNV Germline	Chr8:143921124	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925215	rs_200383203	4 SubmittersRCV000349059 RCV001086252
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)	SNV Germline	Chr8:143919312	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924626	rs_189859084	3 SubmittersRCV000397150 RCV000725096 RCV001088717
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)	SNV Germline	Chr8:143925074	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926521	rs_782026068	5 SubmittersRCV000527679 RCV000725097 RCV002518856
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)	SNV Germline	Chr8:143927885	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927108	rs_376494828	6 SubmittersRCV000300309 RCV001088726 RCV004021109 RCV004737401
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)	SNV Germline	Chr8:143916579	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923872	rs_200589588	6 SubmittersRCV000292376 RCV000725101 RCV001087532 RCV004955369
NM_201384.3(PLEC):c.9150A>G (p.Pro3050=)	SNV Germline	Chr8:143920671	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4925057	rs_782341043	2 SubmittersRCV000279513 RCV001079158
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)	SNV Germline	Chr8:143919519	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924690	rs_199879193	5 SubmittersRCV000725108 RCV001086383 RCV004737402
NM_201384.3(PLEC):c.3513C>T (p.Asp1171=)	SNV Germline	Chr8:143927653	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4927035	rs_377035218	3 SubmittersRCV000361104 RCV001078511
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)	SNV Germline	Chr8:143920527	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925011	rs_376753842	5 SubmittersRCV000288880 RCV001080764
NM_201384.3(PLEC):c.4407C>T (p.Gly1469=)	SNV Germline	Chr8:143925522	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926672	rs_376374602	2 SubmittersRCV000324136 RCV001488357
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)	SNV Germline	Chr8:143921177	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925229	rs_376081492	5 SubmittersRCV000325591 RCV001478103 RCV004737403
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)	SNV Germline	Chr8:143924296	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926289	rs_373617951	6 SubmittersRCV000416273 RCV000687205 RCV004955370
NM_201384.3(PLEC):c.1245C>G (p.Ala415=)	SNV Germline	Chr8:143934016	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4928094	rs_782527499	3 SubmittersRCV000325657 RCV001423299
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)	SNV Germline	Chr8:143925578	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926691	rs_868906137	7 SubmittersRCV000534113 RCV000725142 RCV002288959 RCV004737404
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)	SNV Germline	Chr8:143919078	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924543	rs_375573910	5 SubmittersRCV000298540 RCV000555102
NM_201384.3(PLEC):c.11373C>T (p.Ile3791=)	SNV Germline	Chr8:143918448	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924365	rs_782573219	2 SubmittersRCV000276264 RCV002521889
NM_201384.3(PLEC):c.13485C>T (p.Thr4495=)	SNV Germline	Chr8:143916336	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4923785	rs_782206765	2 SubmittersRCV000327536 RCV001397557
NM_201384.3(PLEC):c.10458C>T (p.Asp3486=)	SNV Germline	Chr8:143919363	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924646	rs_372064842	2 SubmittersRCV000312939 RCV001088489
NM_201384.3(PLEC):c.4488C>T (p.Ala1496=)	SNV Germline	Chr8:143925441	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926643	rs_374108886	2 SubmittersRCV000265218 RCV001078749
NM_201384.3(PLEC):c.540C>T (p.Cys180=)	SNV Germline	Chr8:143935910	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder not specified	Criteria Provided Conflicting Classifications	CA4928410	rs_189256993	6 SubmittersRCV000710176 RCV001087405 RCV004737405 RCV004999207
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)	SNV Germline	Chr8:143917467	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924109	rs_782692436	4 SubmittersRCV000725156 RCV001082017 RCV004543012
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)	SNV Germline	Chr8:143918400	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924355	rs_782144786	3 SubmittersRCV000263823 RCV001461679 RCV004543013
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)	SNV Germline	Chr8:143929177	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4927178	rs_782437578	4 SubmittersRCV000272649 RCV001083965 RCV000725170
NM_201384.3(PLEC):c.10740C>T (p.His3580=)	SNV Germline	Chr8:143919081	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924545	rs_201867859	2 SubmittersRCV000406695 RCV001086463
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)	SNV Germline	Chr8:143923761	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926090	rs_370313601	3 SubmittersRCV000299343 RCV000725175 RCV001859566
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)	SNV Germline	Chr8:143919093	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924551	rs_372840016	4 SubmittersRCV000306155 RCV000725197 RCV001078899
NM_201384.3(PLEC):c.12717C>T (p.Asn4239=)	SNV Germline	Chr8:143917104	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924001	rs_184192014	2 SubmittersRCV000354979 RCV001083736
NM_201384.3(PLEC):c.2785C>T (p.Leu929=)	SNV Germline	Chr8:143929784	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927343	rs_369676162	5 SubmittersRCV000315590 RCV000725207 RCV001088336 RCV004535291
NM_201384.3(PLEC):c.4077C>T (p.Arg1359=)	SNV Germline	Chr8:143925852	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926775	rs_553047216	2 SubmittersRCV000272941 RCV000805045
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)	SNV Germline	Chr8:143922847	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925765	rs_369522291	5 SubmittersRCV000340103 RCV001045422 RCV002518874
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)	SNV Germline	Chr8:143918744	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924441	rs_369497741	8 SubmittersRCV000342261 RCV000725240 RCV001731558 RCV001088184 RCV004021125
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)	SNV Germline	Chr8:143916371	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923805	rs_782650176	5 SubmittersRCV000712724 RCV001088628 RCV004021126
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)	SNV Germline	Chr8:143927578	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927014	rs_377059744	5 SubmittersRCV000512702 RCV001086751
NM_201384.3(PLEC):c.12627C>T (p.Ile4209=)	SNV Germline	Chr8:143917194	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924036	rs_372573622	3 SubmittersRCV000295705 RCV001085753
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)	SNV Germline	Chr8:143917578	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924141	rs_185022156	8 SubmittersRCV000297406 RCV000585456 RCV001083844 RCV004543022
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)	SNV Germline	Chr8:143916612	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4923883	rs_200338374	4 SubmittersRCV000261916 RCV001087033 RCV001731559
NM_201384.3(PLEC):c.10779G>A (p.Ser3593=)	SNV Germline	Chr8:143919042	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924537	rs_375360480	2 SubmittersRCV000317097 RCV001088588
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)	SNV Germline	Chr8:143923689	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926073	rs_576688705	4 SubmittersRCV000286234 RCV000725278 RCV001080282
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)	SNV Germline	Chr8:143925795	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926758	rs_558224639	3 SubmittersRCV000361822 RCV000725293 RCV001087599
NM_201384.3(PLEC):c.13068C>T (p.Phe4356=)	SNV Germline	Chr8:143916753	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4923913	rs_2855765	2 SubmittersRCV000261616 RCV001085469
NM_201384.3(PLEC):c.8505C>T (p.Phe2835=)	SNV Germline	Chr8:143921316	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4925285	rs_782326556	2 SubmittersRCV000260113 RCV001088842
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)	SNV Germline	Chr8:143923151	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925865	rs_371763907	4 SubmittersRCV000328457 RCV000545783
NM_201384.3(PLEC):c.9828G>A (p.Thr3276=)	SNV Germline	Chr8:143919993	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924840	rs_201736785	2 SubmittersRCV000279723 RCV001455487
NM_201384.3(PLEC):c.12438C>T (p.Pro4146=)	SNV Germline	Chr8:143917383	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604557	rs_781866639	2 SubmittersRCV000347877 RCV002521908
NM_201384.3(PLEC):c.3045G>T (p.Pro1015=)	SNV Germline	Chr8:143929450	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604562	rs_368477108	2 SubmittersRCV000267240 RCV001493456
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)	SNV Germline	Chr8:143925460	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926649	rs_371290504	5 SubmittersRCV000364557 RCV001061859
NM_201384.3(PLEC):c.366T>C (p.Asn122=)	SNV Germline	Chr8:143937048	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4928466	rs_782096761	3 SubmittersRCV000298683 RCV001427383
NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)	SNV Germline	Chr8:143921838	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925460	rs_376058402	3 SubmittersRCV000725322 RCV001079511
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)	SNV Germline	Chr8:143917103	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924000	rs_201688261	5 SubmittersRCV000648536 RCV000725329
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)	SNV Germline	Chr8:143923833	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926111	rs_564245730	5 SubmittersRCV000298792 RCV000725349 RCV001089057 RCV004543034
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)	SNV Germline	Chr8:143921755	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4925429	rs_782161008	3 SubmittersRCV000314788 RCV000725362 RCV000554534
NM_201384.3(PLEC):c.5787G>A (p.Ala1929=)	SNV Germline	Chr8:143924142	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4926238	rs_368886943	2 SubmittersRCV000357581 RCV001413979
NM_201384.3(PLEC):c.1650C>T (p.Ser550=)	SNV Germline	Chr8:143932880	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4927907	rs_541271992	3 SubmittersRCV000276882 RCV000725363 RCV001078989
NM_201384.3(PLEC):c.9315C>T (p.Tyr3105=)	SNV Germline	Chr8:143920506	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604643	rs_886044818	2 SubmittersRCV000283619 RCV002059141
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)	SNV Germline	Chr8:143921325	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925288	rs_369013440	3 SubmittersRCV000262071 RCV001088900 RCV004535310
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)	SNV Germline	Chr8:143923830	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926108	rs_375465011	6 SubmittersRCV000725367 RCV001083637 RCV004543035
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)	SNV Germline	Chr8:143923961	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926163	rs_201588551	7 SubmittersRCV000342524 RCV000648497 RCV001808730 RCV004737410
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)	SNV Germline	Chr8:143921059	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925193	rs_191036710	6 SubmittersRCV000337095 RCV000648496 RCV001808731 RCV004737411
NM_201384.3(PLEC):c.7083G>A (p.Thr2361=)	SNV Germline	Chr8:143922846	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4925764	rs_780337094	2 SubmittersRCV000265743 RCV001443044
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)	SNV Germline	Chr8:143920740	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925079	rs_199758196	7 SubmittersRCV000725424 RCV001081883 RCV004535317
NM_201384.3(PLEC):c.2775C>T (p.Ala925=)	SNV Germline	Chr8:143929794	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927344	rs_201202488	4 SubmittersRCV000725425 RCV001087328
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)	SNV Germline	Chr8:143924409	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926339	rs_374790646	4 SubmittersRCV000725458 RCV001080163
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)	SNV Germline	Chr8:143919663	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924736	rs_373820763	4 SubmittersRCV000286049 RCV001080505
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)	SNV Germline	Chr8:143922709	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925722	rs_782618396	5 SubmittersRCV000725470 RCV000819705 RCV004543046
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)	SNV Germline	Chr8:143920129	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924885	rs_377610697	6 SubmittersRCV000725484 RCV001078905 RCV003243040 RCV004543049
NM_201384.3(PLEC):c.1878T>A (p.Thr626=)	SNV Germline	Chr8:143932499	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927805	rs_377039110	3 SubmittersRCV000316432 RCV001088096
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)	SNV Germline	Chr8:143924055	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926206	rs_185082202	4 SubmittersRCV000280542 RCV001081127 RCV004535327
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)	SNV Germline	Chr8:143920103	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924877	rs_75857070	5 SubmittersRCV000270984 RCV000537651 RCV001079482 RCV004535330
NM_201384.3(PLEC):c.10173G>A (p.Ala3391=)	SNV Germline	Chr8:143919648	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924730	rs_549730049	2 SubmittersRCV000281778 RCV001455937
NM_201384.3(PLEC):c.10074C>T (p.Ala3358=)	SNV Germline	Chr8:143919747	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4924765	rs_782741359	2 SubmittersRCV000401434 RCV001431829
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)	SNV Germline	Chr8:143916342	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923790	rs_781929758	6 SubmittersRCV000725567 RCV001084891
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)	SNV Germline	Chr8:143923503	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy not specified	Criteria Provided Conflicting Classifications	CA4925999	rs_200062782	7 SubmittersRCV000340729 RCV001082281 RCV004999225
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)	SNV Germline	Chr8:143921379	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925310	rs_186703073	4 SubmittersRCV000299270 RCV001086490 RCV004543062
NM_201384.3(PLEC):c.5301G>T (p.Leu1767=)	SNV Germline	Chr8:143924628	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926391	rs_782513203	2 SubmittersRCV000394335 RCV001088562
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)	SNV Germline	Chr8:143917605	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924149	rs_150427959	5 SubmittersRCV000725766 RCV001088375 RCV004737415
NM_201384.3(PLEC):c.2458-7G>A	SNV Germline	Chr8:143930305	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927507	rs_372799330	5 SubmittersRCV000304342 RCV000725774 RCV001083481
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)	SNV Germline	Chr8:143918403	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q not specified	Criteria Provided Conflicting Classifications	CA4924357	rs_559510708	3 SubmittersRCV000363730 RCV001087000 RCV001288675
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)	SNV Germline	Chr8:143925519	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926670	rs_782222671	5 SubmittersRCV000287855 RCV001083384 RCV001197632 RCV004535360
NM_201384.3(PLEC):c.390C>T (p.Pro130=)	SNV Germline	Chr8:143937024	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4928462	rs_782187697	2 SubmittersRCV000319055 RCV002519218
NM_201384.3(PLEC):c.4392C>T (p.Thr1464=)	SNV Germline	Chr8:143925537	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926677	rs_372029672	2 SubmittersRCV000367453 RCV001078941
NM_201384.3(PLEC):c.4089C>T (p.Ala1363=)	SNV Germline	Chr8:143925840	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA10605512	rs_886044855	2 SubmittersRCV000260762 RCV003765643
NM_201384.3(PLEC):c.11355C>T (p.Ala3785=)	SNV Germline	Chr8:143918466	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA10605514	rs_886044856	2 SubmittersRCV000286763 RCV001089290
NM_201384.3(PLEC):c.4728G>A (p.Ala1576=)	SNV Germline	Chr8:143925201	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926555	rs_545266312	2 SubmittersRCV000314896 RCV001078987
NM_201384.3(PLEC):c.10869C>T (p.Ile3623=)	SNV Germline	Chr8:143918952	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924511	rs_371565831	2 SubmittersRCV000357961 RCV001081411
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)	SNV Germline	Chr8:143923681	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926068	rs_781878105	11 SubmittersRCV000352378 RCV000725974 RCV001079892 RCV001331245 RCV004737420
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)	SNV Germline	Chr8:143933332	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928029	rs_200893203	3 SubmittersRCV000263573 RCV001088725 RCV004543102
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)	SNV Germline	Chr8:143916351	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923796	rs_531535217	3 SubmittersRCV000368664 RCV003103754 RCV004543103
NM_201384.3(PLEC):c.13023G>A (p.Val4341=)	SNV Germline	Chr8:143916798	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923922	rs_567904252	3 SubmittersRCV000349485 RCV001398369
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)	SNV Germline	Chr8:143921505	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925362	rs_782420340	4 SubmittersRCV000272326 RCV000726057 RCV001088535
NM_201384.3(PLEC):c.6249G>A (p.Ala2083=)	SNV Germline	Chr8:143923680	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926067	rs_377026986	2 SubmittersRCV000405308 RCV001089059
NM_201384.3(PLEC):c.1737+9C>T	SNV Germline	Chr8:143932784	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4927885	rs_371976170	2 SubmittersRCV000309859 RCV000648634
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)	SNV Germline	Chr8:143916350	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923795	rs_782756146	6 SubmittersRCV000402032 RCV003165766 RCV000726265 RCV001039102
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)	SNV Germline	Chr8:143922749	Pathogenic	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606513	rs_886044894	3 SubmittersRCV000627224 RCV002518096
NM_201384.3(PLEC):c.10602C>T (p.Pro3534=)	SNV Germline	Chr8:143919219	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924594	rs_782052487	2 SubmittersRCV000296312 RCV001080652
NM_201384.3(PLEC):c.5556G>A (p.Ala1852=)	SNV Germline	Chr8:143924373	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926326	rs_782115169	2 SubmittersRCV000366793 RCV002059285
NM_201384.3(PLEC):c.8952C>T (p.Ala2984=)	SNV Germline	Chr8:143920869	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925127	rs_371672166	2 SubmittersRCV000390852 RCV001086244
NM_201384.3(PLEC):c.12999C>T (p.Thr4333=)	SNV Germline	Chr8:143916822	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923928	rs_782592963	2 SubmittersRCV000294351 RCV001082349
NM_201384.3(PLEC):c.963C>T (p.Phe321=)	SNV Germline	Chr8:143934713	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy not specified PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928228	rs_368425406	4 SubmittersRCV000375820 RCV001079033 RCV001288672 RCV004543137
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr8:143927633	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927030	rs_782590380	5 SubmittersRCV000278926 RCV000793112 RCV004999248 RCV004955389
NM_201384.3(PLEC):c.3780C>T (p.Arg1260=)	SNV Germline	Chr8:143927312	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926932	rs_201737115	2 SubmittersRCV000351123 RCV001086526
NM_201384.3(PLEC):c.10116C>T (p.Tyr3372=)	SNV Germline	Chr8:143919705	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924749	rs_370643130	2 SubmittersRCV000354547 RCV002518141
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)	SNV Germline	Chr8:143922080	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925528	rs_782485083	5 SubmittersRCV000399731 RCV000696993 RCV004955393
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)	SNV Germline	Chr8:143924900	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926453	rs_373952777	6 SubmittersRCV000415816 RCV001088925 RCV004659020
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His)	SNV Germline	Chr8:143918383	Conflicting classifications of pathogenicity	not specified PLEC-related epidermolysis bullosa Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4924351	rs_782311906	3 SubmittersRCV000441095 RCV001270892 RCV000793945 RCV003985085
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)	SNV Germline	Chr8:143918533	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924391	rs_377598440	4 SubmittersRCV000443829 RCV000820018 RCV003129858 RCV003258811
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)	SNV Germline	Chr8:143919362	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924645	rs_202001247	4 SubmittersRCV001042687 RCV001703823 RCV002525364
NM_201384.3(PLEC):c.9071A>G (p.Asn3024Ser)	SNV Germline	Chr8:143920750	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925087	rs_535089650	3 SubmittersRCV000434185 RCV000547493 RCV004022439
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)	SNV Germline	Chr8:143921895	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925477	rs_201098035	4 SubmittersRCV000725544 RCV002059577
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)	SNV Germline	Chr8:143922336	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925606	rs_542567139	3 SubmittersRCV000437922 RCV000733714 RCV001078563
NM_201384.3(PLEC):c.7441C>G (p.Gln2481Glu)	SNV Germline	Chr8:143922380	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925615	rs_782016209	3 SubmittersRCV000648568 RCV001704300 RCV002521774
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)	SNV Germline	Chr8:143916185	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923741	rs_573424409	6 SubmittersRCV000422312 RCV000705982 RCV000725526 RCV004022470
NM_201384.3(PLEC):c.11752A>G (p.Ile3918Val)	SNV Germline	Chr8:143918069	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924253	rs_574764116	2 SubmittersRCV000434297 RCV002524850
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)	SNV Germline	Chr8:143918785	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924452	rs_200060757	3 SubmittersRCV000725675 RCV000797131
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)	SNV Germline	Chr8:143919716	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924751	rs_201373953	7 SubmittersRCV000426757 RCV000548134 RCV001087699 RCV001354949 RCV002521785 RCV004533057
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)	SNV Germline	Chr8:143920909	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4925140	rs_552713184	3 SubmittersRCV000445189 RCV001215225 RCV003133257
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)	SNV Germline	Chr8:143921208	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925249	rs_35821434	6 SubmittersRCV000726443 RCV001087715 RCV004737482
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)	SNV Germline	Chr8:143921340	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925294	rs_377660488	3 SubmittersRCV000445108 RCV000727711 RCV001435824
NM_201384.3(PLEC):c.4978G>A (p.Ala1660Thr)	SNV Germline	Chr8:143924951	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926478	rs_781997708	2 SubmittersRCV000419056 RCV001861552
NM_201384.3(PLEC):c.1977+7G>A	SNV Germline	Chr8:143932393	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4927764	rs_184363750	3 SubmittersRCV000439993 RCV000726284 RCV001079798
NM_201384.3(PLEC):c.885G>A (p.Met295Ile)	SNV Germline	Chr8:143934870	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4928270	rs_201041690	4 SubmittersRCV000648492 RCV001704330 RCV004022409
NM_201384.3(PLEC):c.825C>T (p.Asn275=)	SNV Germline	Chr8:143935011	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4928308	rs_113133985	3 SubmittersRCV000543888 RCV000727353
NM_201384.3(PLEC):c.11539G>A (p.Val3847Met)	SNV Germline	Chr8:143918282	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924323	rs_201654895	3 SubmittersRCV000418111 RCV000795473 RCV003133261
NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val)	SNV Germline	Chr8:143919124	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924560	rs_782700068	4 SubmittersRCV000421027 RCV000558912 RCV004022436 RCV004737484
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)	SNV Germline	Chr8:143919892	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924810	rs_183230983	5 SubmittersRCV000435977 RCV000726574 RCV000819333 RCV002524872
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)	SNV Germline	Chr8:143920108	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924879	rs_782085661	3 SubmittersRCV000443980 RCV000706705 RCV003129859
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)	SNV Germline	Chr8:143924067	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926210	rs_550994317	3 SubmittersRCV000437259 RCV000731452 RCV001087920
NM_201384.3(PLEC):c.4586G>A (p.Arg1529His)	SNV Germline	Chr8:143925343	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA16605449	rs_1057520714	2 SubmittersRCV000436465 RCV001315527
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)	SNV Germline	Chr8:143929533	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927274	rs_367627441	4 SubmittersRCV000444396 RCV000686363 RCV000726447 RCV003168674
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)	SNV Germline	Chr8:143916240	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4923755	rs_562934299	3 SubmittersRCV000417823 RCV000876719 RCV001415694
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)	SNV Germline	Chr8:143917257	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924052	rs_140191309	4 SubmittersRCV000429316 RCV000728337 RCV001078581 RCV004737487
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln)	SNV Germline	Chr8:143918086	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4924258	rs_781960031	3 SubmittersRCV000648542 RCV001703486
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)	SNV Germline	Chr8:143918183	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4924281	rs_541209817	4 SubmittersRCV000437288 RCV001040596 RCV001509353
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)	SNV Germline	Chr8:143918259	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4924312	rs_781931763	3 SubmittersRCV000433919 RCV000726967 RCV001463035
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)	SNV Germline	Chr8:143918790	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924455	rs_376779580	3 SubmittersRCV000727117 RCV001089182
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)	SNV Germline	Chr8:143919664	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924737	rs_532234200	4 SubmittersRCV000430172 RCV000727107 RCV000807313
NM_201384.3(PLEC):c.7639C>T (p.Arg2547Trp)	SNV Germline	Chr8:143922182	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925558	rs_782242954	3 SubmittersRCV000424970 RCV001062533 RCV004955483
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)	SNV Germline	Chr8:143923988	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4926178	rs_962321651	3 SubmittersRCV000430720 RCV000542752 RCV003133258
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)	SNV Germline	Chr8:143930033	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927429	rs_200611519	7 SubmittersRCV000435316 RCV000725844 RCV000795472 RCV002521792 RCV004533062
NM_201384.3(PLEC):c.2178+10G>A	SNV Germline	Chr8:143931927	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4927631	rs_781817693	3 SubmittersRCV000442955 RCV000648697 RCV000727823
NM_201384.3(PLEC):c.537A>G (p.Arg179=)	SNV Germline	Chr8:143935913	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4928411	rs_782604399	3 SubmittersRCV000727847 RCV001308378
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)	SNV Germline	Chr8:143932854	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4927900	rs_376555091	4 SubmittersRCV000454865 RCV001051305 RCV001584123
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr8:143934427	Likely pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	No Assertion Criteria Provided	CA16616909	rs_1060499581	1 SubmittersRCV000477758
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met)	SNV Germline	Chr8:143919980	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications	CA4924832	rs_202005454	3 SubmittersRCV000551666 RCV001696894
NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)	SNV Germline	Chr8:143925143	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926538	rs_782244301	2 SubmittersRCV000486500 RCV001392204
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)	SNV Germline	Chr8:143927490	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4926989	rs_782539707	3 SubmittersRCV000485767 RCV000798873
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)	SNV Germline	Chr8:143921780	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925442	rs_200128670	6 SubmittersRCV000556369 RCV000727773 RCV002526039 RCV004737560
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)	SNV Germline	Chr8:143925812	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926764	rs_782378494	3 SubmittersRCV000493043 RCV000727166 RCV001202176
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)	SNV Germline	Chr8:143923465	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925980	rs_201922111	7 SubmittersRCV000648566 RCV000727788 RCV002524102
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)	SNV Germline	Chr8:143932408	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927772	rs_199843296	6 SubmittersRCV000712725 RCV001080262 RCV004023344
NM_201384.3(PLEC):c.1753G>A (p.Ala585Thr)	SNV Germline	Chr8:143932697	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA187621314	rs_368520468	2 SubmittersRCV000497554 RCV000692355
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)	SNV Germline	Chr8:143934021	Pathogenic/Likely pathogenic	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Multiple Submitters No Conflicts	CA372583912	rs_1554719990	2 SubmittersRCV000498390 RCV002524074
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)	SNV Germline	Chr8:143916574	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923869	rs_201855218	8 SubmittersRCV000500644 RCV000725640 RCV000764746 RCV000796522 RCV004023395
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)	SNV Germline	Chr8:143929425	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927240	rs_376665854	7 SubmittersRCV000502378 RCV000725600 RCV001085255 RCV003278854 RCV004535607
NM_201384.3(PLEC):c.265-9T>G	SNV Germline	Chr8:143937251	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4928509	rs_376483549	4 SubmittersRCV000509252 RCV000597936 RCV000793988
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)	SNV Germline	Chr8:143916836	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923934	rs_375593618	5 SubmittersRCV000512847 RCV000648517 RCV002524973
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)	SNV Germline	Chr8:143918227	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924303	rs_200722246	5 SubmittersRCV000516968 RCV000726188 RCV002060251 RCV004537855
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)	SNV Germline	Chr8:143920798	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4925105	rs_200176579	5 SubmittersRCV000517970 RCV000558676 RCV000727764
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)	SNV Germline	Chr8:143921506	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA4925363	rs_201916690	5 SubmittersRCV000518817 RCV000648520 RCV000730507 RCV002252149
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)	SNV Germline	Chr8:143923663	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4926060	rs_782278608	5 SubmittersRCV000516442 RCV002060252 RCV003159661 RCV000727425
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)	SNV Germline	Chr8:143924949	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926476	rs_199612329	5 SubmittersRCV000517607 RCV000871097 RCV001080078 RCV004737593
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)	SNV Germline	Chr8:143926870	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926829	rs_372256096	6 SubmittersRCV000518288 RCV000726855 RCV001081655 RCV004737592
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)	SNV Germline	Chr8:143927305	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926928	rs_377125427	5 SubmittersRCV000517992 RCV000876023 RCV001722437 RCV004541613
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)	SNV Germline	Chr8:143931975	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927642	rs_189137260	5 SubmittersRCV000516810 RCV000871807 RCV002255424 RCV002527511
NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile)	SNV Germline	Chr8:143921501	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925360	rs_782359700	4 SubmittersRCV000522422 RCV001045987 RCV004023556 RCV004737598
NM_201384.3(PLEC):c.4364G>A (p.Arg1455His)	SNV Germline	Chr8:143925565	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4926686	rs_542878693	2 SubmittersRCV000798395 RCV001722442
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)	SNV Germline	Chr8:143916372	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications	CA4923806	rs_782187551	3 SubmittersRCV000528968 RCV000598082
NM_201384.3(PLEC):c.13097C>T (p.Thr4366Ile)	SNV Germline	Chr8:143916724	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923903	rs_200807583	3 SubmittersRCV000734209 RCV001080164 RCV002530076
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)	SNV Germline	Chr8:143917040	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4923981	rs_200924154	5 SubmittersRCV000596978 RCV001087492 RCV004538038
NM_201384.3(PLEC):c.8932C>T (p.Arg2978Cys)	SNV Germline	Chr8:143920889	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4925135	rs_782297488	2 SubmittersRCV000538074 RCV003133347
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)	SNV Germline	Chr8:143923884	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications	CA4926128	rs_200540800	4 SubmittersRCV000556675 RCV001539647
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)	SNV Germline	Chr8:143924422	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926342	rs_782216341	4 SubmittersRCV000546115 RCV001561642 RCV004649201
NM_201384.3(PLEC):c.1506G>C (p.Gln502His)	SNV Germline	Chr8:143933024	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4927939	rs_571497788	4 SubmittersRCV000592909 RCV000726708 RCV001089178
NM_201384.3(PLEC):c.759C>T (p.Thr253=)	SNV Germline	Chr8:143935077	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928325	rs_377118309	3 SubmittersRCV000592891 RCV001080390 RCV004737821
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)	SNV Germline	Chr8:143916180	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4923740	rs_782535880	3 SubmittersRCV000727741 RCV001086615
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)	SNV Germline	Chr8:143918164	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924277	rs_368152307	6 SubmittersRCV000534635 RCV000591057 RCV003243190
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)	SNV Germline	Chr8:143918345	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924344	rs_781836500	6 SubmittersRCV000728532 RCV001088642 RCV002529028 RCV004543278
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)	SNV Germline	Chr8:143918224	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924299	rs_377150241	6 SubmittersRCV000556602 RCV000596912 RCV003343915
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)	SNV Germline	Chr8:143919691	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4924742	rs_375724891	5 SubmittersRCV000525646 RCV000585576 RCV000610926
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)	SNV Germline	Chr8:143919322	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924629	rs_201387815	5 SubmittersRCV000560530 RCV000594196 RCV002527964
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)	SNV Germline	Chr8:143922135	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925545	rs_534269714	3 SubmittersRCV000731783 RCV001079717 RCV004538043
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)	SNV Germline	Chr8:143923287	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4925917	rs_559736151	4 SubmittersRCV000553328 RCV000595655 RCV000727531
NM_201384.3(PLEC):c.9756G>A (p.Thr3252=)	SNV Germline	Chr8:143920065	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924863	rs_782717194	2 SubmittersRCV000548004 RCV000733875
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)	SNV Germline	Chr8:143923491	Conflicting classifications of pathogenicity	Condition: not provided not specified Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925992	rs_374211586	4 SubmittersRCV000535874 RCV000593117 RCV001088364 RCV004543193
NM_201384.3(PLEC):c.6037C>T (p.Arg2013Trp)	SNV Germline	Chr8:143923892	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926133	rs_34893635	2 SubmittersRCV000536048 RCV004538042
NM_201384.3(PLEC):c.8454C>T (p.Pro2818=)	SNV Germline	Chr8:143921367	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4925304	rs_782419323	2 SubmittersRCV000528040 RCV000731692
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)	SNV Germline	Chr8:143924050	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926205	rs_367679924	5 SubmittersRCV000533391 RCV000727803 RCV004024180
NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)	SNV Germline	Chr8:143924327	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications	CA4926305	rs_200543521	3 SubmittersRCV000549715 RCV001591253
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)	SNV Germline	Chr8:143922560	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4925674	rs_200652637	4 SubmittersRCV000533256 RCV000601732 RCV003133344
NM_201384.3(PLEC):c.4758C>G (p.Ala1586=)	SNV Germline	Chr8:143925171	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926547	rs_782073897	2 SubmittersRCV000734425 RCV001088965
NM_201384.3(PLEC):c.792C>T (p.Arg264=)	SNV Germline	Chr8:143935044	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928317	rs_782391508	3 SubmittersRCV000727740 RCV001084112 RCV004737822
NM_201384.3(PLEC):c.3687G>T (p.Arg1229=)	SNV Germline	Chr8:143927479	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4926983	rs_782037394	2 SubmittersRCV000526513 RCV000596341
NM_201384.3(PLEC):c.2163C>T (p.Asn721=)	SNV Germline	Chr8:143931952	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4927637	rs_374712759	3 SubmittersRCV000727065 RCV001088419
NM_201384.3(PLEC):c.10431C>T (p.Pro3477=)	SNV Germline	Chr8:143919390	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924655	rs_200509064	2 SubmittersRCV000594550 RCV001078594
NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln)	SNV Germline	Chr8:143919778	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4924775	rs_556517027	2 SubmittersRCV000576198 RCV003133382
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)	SNV Germline	Chr8:143922559	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925672	rs_199504105	7 SubmittersRCV000553900 RCV000727708 RCV004737820
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)	SNV Germline	Chr8:143923088	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925834	rs_200618217	6 SubmittersRCV000529959 RCV000727816 RCV000609012 RCV004024181
NM_201384.3(PLEC):c.6840C>T (p.Ala2280=)	SNV Germline	Chr8:143923089	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925835	rs_202182619	2 SubmittersRCV000727856 RCV001421530
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)	SNV Germline	Chr8:143923513	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926003	rs_372652727	8 SubmittersRCV000536622 RCV000593069 RCV002530083 RCV004737819
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)	SNV Germline	Chr8:143923688	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4926072	rs_782450868	4 SubmittersRCV000526688 RCV000605974 RCV002530081 RCV003133342
NM_201384.3(PLEC):c.3639C>T (p.Arg1213=)	SNV Germline	Chr8:143927527	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4926996	rs_782293819	2 SubmittersRCV000534414 RCV000732260
NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met)	SNV Germline	Chr8:143927732	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927067	rs_200672373	5 SubmittersRCV000556916 RCV001722504 RCV004024177 RCV004543191
NM_201384.3(PLEC):c.897G>A (p.Thr299=)	SNV Germline	Chr8:143934858	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928266	rs_377035835	4 SubmittersRCV000593002 RCV001450091 RCV004543194
NM_201384.3(PLEC):c.12282C>T (p.Asn4094=)	SNV Germline	Chr8:143917539	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4924126	rs_536268706	2 SubmittersRCV000578773 RCV002529052
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)	SNV Germline	Chr8:143931570	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type not specified	Criteria Provided Conflicting Classifications	CA4927598	rs_371267446	4 SubmittersRCV000712726 RCV001084463 RCV005000365
NM_201384.3(PLEC):c.6038G>A (p.Arg2013Gln)	SNV Germline	Chr8:143923891	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926132	rs_369708974	2 SubmittersRCV000594805 RCV001485099
NM_201384.3(PLEC):c.2541C>T (p.Ser847=)	SNV Germline	Chr8:143930215	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4927483	rs_374688294	4 SubmittersRCV000594610 RCV000725461 RCV001459051
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)	SNV Germline	Chr8:143922229	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4925572	rs_369729231	3 SubmittersRCV000598086 RCV002530953
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)	SNV Germline	Chr8:143927974	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4927139	rs_371818099	3 SubmittersRCV000594816 RCV000725578 RCV001078582
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)	SNV Germline	Chr8:143917377	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924080	rs_143548638	3 SubmittersRCV000596312 RCV001087417 RCV004543308
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)	SNV Germline	Chr8:143924118	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4926233	rs_199990259	5 SubmittersRCV000725612 RCV001088172
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)	SNV Germline	Chr8:143920415	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4924979	rs_200680102	5 SubmittersRCV000593219 RCV000764748 RCV001241498
NM_201384.3(PLEC):c.113-6C>T	SNV Germline	Chr8:143938698	Conflicting classifications of pathogenicity	Condition: not provided PLEC-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4928625	rs_782235036	4 SubmittersRCV000594097 RCV004543309 RCV002530956
NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)	SNV Germline	Chr8:143919895	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924812	rs_201369301	5 SubmittersRCV000592614 RCV001088888 RCV004527670
NM_201384.3(PLEC):c.804G>A (p.Val268=)	SNV Germline	Chr8:143935032	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463536663	rs_1554721745	3 SubmittersRCV000592079 RCV000725667 RCV003767350
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)	SNV Germline	Chr8:143922868	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925770	rs_370003608	5 SubmittersRCV000594258 RCV000688855 RCV000725806 RCV004737852
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)	SNV Germline	Chr8:143920244	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924925	rs_201402970	5 SubmittersRCV000595300 RCV000703595 RCV004024699
NM_201384.3(PLEC):c.8981G>A (p.Arg2994His)	SNV Germline	Chr8:143920840	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925119	rs_200970115	5 SubmittersRCV000598514 RCV000812370 RCV004955676
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=)	SNV Germline	Chr8:143923530	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926008	rs_375489890	3 SubmittersRCV000595645 RCV000648586 RCV004737853
NM_201384.3(PLEC):c.6243C>T (p.Gly2081=)	SNV Germline	Chr8:143923686	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926070	rs_782746363	3 SubmittersRCV000594122 RCV001239242
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)	SNV Germline	Chr8:143930220	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927486	rs_189233521	4 SubmittersRCV000597334 RCV001088460 RCV004543310
NM_201384.3(PLEC):c.7665G>A (p.Ala2555=)	SNV Germline	Chr8:143922156	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925553	rs_567558623	2 SubmittersRCV000595134 RCV001088182
NM_201384.3(PLEC):c.3711G>T (p.Pro1237=)	SNV Germline	Chr8:143927455	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463535556	rs_572124553	2 SubmittersRCV000595206 RCV000648587
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)	SNV Germline	Chr8:143919925	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924820	rs_368318946	6 SubmittersRCV000594923 RCV000805840 RCV002530960
NM_201384.3(PLEC):c.9750G>A (p.Thr3250=)	SNV Germline	Chr8:143920071	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924865	rs_200774407	2 SubmittersRCV000596636 RCV001478551
NM_201384.3(PLEC):c.2094G>A (p.Ala698=)	SNV Germline	Chr8:143932021	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927653	rs_373347166	3 SubmittersRCV000596606 RCV000648655
NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)	SNV Germline	Chr8:143916363	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4923804	rs_782560017	2 SubmittersRCV000592941 RCV001484245
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)	SNV Germline	Chr8:143924460	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926357	rs_771101893	3 SubmittersRCV000595552 RCV001419744 RCV004543312
NM_201384.3(PLEC):c.5638C>T (p.Leu1880=)	SNV Germline	Chr8:143924291	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926285	rs_782790022	2 SubmittersRCV000598453 RCV003767352
NM_201384.3(PLEC):c.4247G>A (p.Arg1416His)	SNV Germline	Chr8:143925682	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926721	rs_565291398	4 SubmittersRCV000591344 RCV001490049 RCV003352932
NM_201384.3(PLEC):c.3457C>T (p.Leu1153=)	SNV Germline	Chr8:143927709	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463535923	rs_1289830071	2 SubmittersRCV000595214 RCV001503232
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)	SNV Germline	Chr8:143924347	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926316	rs_200949161	6 SubmittersRCV000727203 RCV001079937 RCV004024702 RCV004543313
NM_201384.3(PLEC):c.6843G>A (p.Ala2281=)	SNV Germline	Chr8:143923086	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925832	rs_782156855	2 SubmittersRCV000592039 RCV001087686
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)	SNV Germline	Chr8:143921086	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA187611776	rs_935096656	4 SubmittersRCV000595740 RCV001853999
NM_201384.3(PLEC):c.4494C>T (p.Arg1498=)	SNV Germline	Chr8:143925435	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463535329	rs_1458728542	2 SubmittersRCV000598030 RCV002061998
NM_201384.3(PLEC):c.12516C>T (p.Ser4172=)	SNV Germline	Chr8:143917305	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924066	rs_782180398	2 SubmittersRCV000591630 RCV001453790
NM_201384.3(PLEC):c.9288A>G (p.Leu3096=)	SNV Germline	Chr8:143920533	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925015	rs_782397500	2 SubmittersRCV000597488 RCV003767354
NM_201384.3(PLEC):c.8283C>T (p.Pro2761=)	SNV Germline	Chr8:143921538	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925372	rs_533602337	2 SubmittersRCV000593442 RCV003767355
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)	SNV Germline	Chr8:143916420	Conflicting classifications of pathogenicity	Condition: not provided not specified PLEC-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923817	rs_782114678	4 SubmittersRCV000726513 RCV000597257 RCV004530652 RCV001080407
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)	SNV Germline	Chr8:143916984	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4923969	rs_759030267	4 SubmittersRCV000591982 RCV001089413
NM_201384.3(PLEC):c.7206C>T (p.Asp2402=)	SNV Germline	Chr8:143922723	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925729	rs_374041678	2 SubmittersRCV000593083 RCV001084712
NM_201384.3(PLEC):c.3253C>T (p.Leu1085=)	SNV Germline	Chr8:143929110	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4927164	rs_781989280	2 SubmittersRCV000593197 RCV002532370
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)	SNV Germline	Chr8:143923272	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4925914	rs_762600030	4 SubmittersRCV000596791 RCV001447865
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)	SNV Germline	Chr8:143921775	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925441	rs_375590561	4 SubmittersRCV000597290 RCV001080389 RCV004530661
NM_201384.3(PLEC):c.1418+10G>C	SNV Germline	Chr8:143933187	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA658797171	rs_782571969	5 SubmittersRCV001084858 RCV000596940 RCV004543323
NM_201384.3(PLEC):c.9267C>T (p.Pro3089=)	SNV Germline	Chr8:143920554	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925018	rs_371751108	2 SubmittersRCV000597304 RCV001089161
NM_201384.3(PLEC):c.13044C>T (p.Arg4348=)	SNV Germline	Chr8:143916777	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463525768	rs_1413390454	2 SubmittersRCV000591714 RCV002532390
NM_201384.3(PLEC):c.627G>A (p.Lys209=)	SNV Germline	Chr8:143935289	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463536822	rs_1554722232	2 SubmittersRCV000598151 RCV001444100
NM_201384.3(PLEC):c.2004G>A (p.Lys668=)	SNV Germline	Chr8:143932208	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463536212	rs_1407649319	2 SubmittersRCV000597461 RCV001440781
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)	SNV Germline	Chr8:143925636	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926712	rs_782198489	3 SubmittersRCV000591531 RCV002062014 RCV004530669
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)	SNV Germline	Chr8:143925603	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type not specified	Criteria Provided Conflicting Classifications	CA4926703	rs_369943756	4 SubmittersRCV000594416 RCV001078634 RCV001288291
NM_201384.3(PLEC):c.11037G>A (p.Ala3679=)	SNV Germline	Chr8:143918784	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924451	rs_555044240	2 SubmittersRCV000597611 RCV001473649
NM_201384.3(PLEC):c.5923C>T (p.Leu1975=)	SNV Germline	Chr8:143924006	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463534172	rs_782656731	2 SubmittersRCV000592878 RCV002531019
NM_201384.3(PLEC):c.2613-4C>T	SNV Germline	Chr8:143930066	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4927436	rs_370001506	2 SubmittersRCV000596962 RCV001398794
NM_201384.3(PLEC):c.8673C>G (p.Gly2891=)	SNV Germline	Chr8:143921148	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA463531164	rs_782370134	2 SubmittersRCV000595678 RCV001435427
NM_201384.3(PLEC):c.7405C>T (p.Leu2469=)	SNV Germline	Chr8:143922524	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925663	rs_782350068	2 SubmittersRCV000593562 RCV001479142
NM_201384.3(PLEC):c.1305G>A (p.Ala435=)	SNV Germline	Chr8:143933310	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928020	rs_369877618	5 SubmittersRCV000594156 RCV001083796 RCV004530683
NM_201384.3(PLEC):c.1122C>T (p.His374=)	SNV Germline	Chr8:143934365	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4928165	rs_372270485	3 SubmittersRCV000594950 RCV000726969 RCV001392596
NM_201384.3(PLEC):c.5942G>A (p.Arg1981Gln)	SNV Germline	Chr8:143923987	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926177	rs_782635621	4 SubmittersRCV000593349 RCV001860181 RCV004024759
NM_201384.3(PLEC):c.6267G>A (p.Ala2089=)	SNV Germline	Chr8:143923662	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926059	rs_782033629	2 SubmittersRCV000593397 RCV001455984
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)	SNV Germline	Chr8:143924297	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926290	rs_782312793	6 SubmittersRCV000597533 RCV000795645
NM_201384.3(PLEC):c.741C>T (p.Asp247=)	SNV Germline	Chr8:143935095	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4928327	rs_781847274	2 SubmittersRCV000593784 RCV001412608
NM_201384.3(PLEC):c.5610G>A (p.Ala1870=)	SNV Germline	Chr8:143924319	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4926302	rs_782258533	2 SubmittersRCV000592606 RCV001067653
NM_201384.3(PLEC):c.1335G>A (p.Ala445=)	SNV Germline	Chr8:143933280	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4928012	rs_530403338	2 SubmittersRCV000597756 RCV002062056
NM_201384.3(PLEC):c.9204C>T (p.Ile3068=)	SNV Germline	Chr8:143920617	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA187611153	rs_1022654495	2 SubmittersRCV000598070 RCV001452519
NM_201384.3(PLEC):c.10314C>T (p.Asp3438=)	SNV Germline	Chr8:143919507	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4924688	rs_62642462	2 SubmittersRCV000597044 RCV001484177
NM_201384.3(PLEC):c.4494C>G (p.Arg1498=)	SNV Germline	Chr8:143925435	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA463535330	rs_1458728542	2 SubmittersRCV000593634 RCV002532510
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)	SNV Germline	Chr8:143920293	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4924944	rs_368317567	3 SubmittersRCV000597782 RCV000727156 RCV001480434
NM_201384.3(PLEC):c.9531C>T (p.Asp3177=)	SNV Germline	Chr8:143920290	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4924941	rs_782764977	2 SubmittersRCV000592981 RCV003767386
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)	SNV Germline	Chr8:143927261	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4926916	rs_202217053	3 SubmittersRCV000593490 RCV002062070 RCV004543368
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)	SNV Germline	Chr8:143923434	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925967	rs_201462310	3 SubmittersRCV000597707 RCV001430047 RCV004543369
NM_201384.3(PLEC):c.8610C>G (p.Arg2870=)	SNV Germline	Chr8:143921211	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4925250	rs_200653758	2 SubmittersRCV000593749 RCV001854066
NM_201384.3(PLEC):c.13077C>T (p.Phe4359=)	SNV Germline	Chr8:143916744	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4923911	rs_782380080	2 SubmittersRCV000597666 RCV001435368
NM_201384.3(PLEC):c.8019G>T (p.Ala2673=)	SNV Germline	Chr8:143921802	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4925451	rs_374178650	3 SubmittersRCV000594030 RCV002062074
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)	SNV Germline	Chr8:143916214	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4923747	rs_781985768	4 SubmittersRCV000595493 RCV000817784 RCV004024797
NM_201384.3(PLEC):c.2439C>T (p.Cys813=)	SNV Germline	Chr8:143930402	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4927535	rs_782233609	2 SubmittersRCV000597962 RCV001417523
NM_201384.3(PLEC):c.678G>A (p.Ala226=)	SNV Germline	Chr8:143935238	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928353	rs_782369854	4 SubmittersRCV000593495 RCV001363013 RCV000727352 RCV004530709
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)	SNV Germline	Chr8:143919255	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy not specified	Criteria Provided Conflicting Classifications	CA4924606	rs_200741156	3 SubmittersRCV000591508 RCV001416570 RCV001662644
NM_201384.3(PLEC):c.6033C>T (p.Val2011=)	SNV Germline	Chr8:143923896	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926135	rs_782488330	2 SubmittersRCV000596539 RCV001089167
NM_201384.3(PLEC):c.5655G>A (p.Ala1885=)	SNV Germline	Chr8:143924274	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926281	rs_782216683	2 SubmittersRCV000593766 RCV001082656
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)	SNV Germline	Chr8:143923617	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926045	rs_782048792	3 SubmittersRCV000592604 RCV001084646
NM_201384.3(PLEC):c.3954C>T (p.Asp1318=)	SNV Germline	Chr8:143926874	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA463535234	rs_1554706146	2 SubmittersRCV000595334 RCV001087027
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)	SNV Germline	Chr8:143916225	Conflicting classifications of pathogenicity	Condition: not provided PLEC-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4923750	rs_781917029	3 SubmittersRCV000592992 RCV004543377 RCV002062086
NM_201384.3(PLEC):c.3963G>A (p.Thr1321=)	SNV Germline	Chr8:143926865	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA463535213	rs_1405843505	2 SubmittersRCV000593191 RCV001427859
NM_201384.3(PLEC):c.2535C>T (p.Ser845=)	SNV Germline	Chr8:143930221	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927487	rs_199721954	3 SubmittersRCV000595884 RCV001520960 RCV004530712
NM_201384.3(PLEC):c.5616C>T (p.Asp1872=)	SNV Germline	Chr8:143924313	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926299	rs_371589575	2 SubmittersRCV000591942 RCV001493445
NM_201384.3(PLEC):c.1546G>A (p.Glu516Lys)	SNV Germline	Chr8:143932984	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4927928	rs_530596364	2 SubmittersRCV000591157 RCV002062088
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)	SNV Germline	Chr8:143919030	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924533	rs_537994918	5 SubmittersRCV000595080 RCV000727410 RCV002062089 RCV004543378
NM_201384.3(PLEC):c.2736C>G (p.Ala912=)	SNV Germline	Chr8:143929939	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927403	rs_558031489	4 SubmittersRCV000596675 RCV001088039 RCV004737874
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)	SNV Germline	Chr8:143927049	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy not specified PLEC-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4926867	rs_374669316	4 SubmittersRCV000648602 RCV000593132 RCV004543379 RCV000727412
NM_201384.3(PLEC):c.11503G>A (p.Asp3835Asn)	SNV Germline	Chr8:143918318	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia not specified	Criteria Provided Conflicting Classifications	CA4924334	rs_368824832	3 SubmittersRCV000595617 RCV000648631 RCV004701694
NM_201384.3(PLEC):c.5013C>T (p.Arg1671=)	SNV Germline	Chr8:143924916	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926463	rs_537901575	2 SubmittersRCV000591765 RCV000807039
NM_201384.3(PLEC):c.1668C>T (p.Gly556=)	SNV Germline	Chr8:143932862	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4927901	rs_369796183	3 SubmittersRCV000648598 RCV000597150
NM_201384.3(PLEC):c.4584G>A (p.Ala1528=)	SNV Germline	Chr8:143925345	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926609	rs_782501584	2 SubmittersRCV000596355 RCV001460365
NM_201384.3(PLEC):c.4044+9C>T	SNV Germline	Chr8:143926775	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA586158307	rs_1554705813	2 SubmittersRCV000593131 RCV001078691
NM_201384.3(PLEC):c.615C>T (p.Ile205=)	SNV Germline	Chr8:143935301	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4928368	rs_199868457	2 SubmittersRCV000594644 RCV001422859
NM_201384.3(PLEC):c.7566C>T (p.Asp2522=)	SNV Germline	Chr8:143922255	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4925585	rs_372843420	2 SubmittersRCV000596971 RCV001088932
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)	SNV Germline	Chr8:143924485	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926362	rs_782213742	5 SubmittersRCV000597317 RCV001867990 RCV004024849
NM_201384.3(PLEC):c.6279G>A (p.Ala2093=)	SNV Germline	Chr8:143923650	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926056	rs_539190005	2 SubmittersRCV000592731 RCV001082392
NM_201384.3(PLEC):c.8640C>T (p.Cys2880=)	SNV Germline	Chr8:143921181	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4925230	rs_782111379	2 SubmittersRCV000595463 RCV002065182
NM_201384.3(PLEC):c.12675C>G (p.Gly4225=)	SNV Germline	Chr8:143917146	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4924017	rs_371534902	2 SubmittersRCV000593992 RCV002065183
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)	SNV Germline	Chr8:143919643	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4924729	rs_370079447	6 SubmittersRCV000596668 RCV000727512 RCV000810147 RCV003160062
NM_201384.3(PLEC):c.8577C>T (p.His2859=)	SNV Germline	Chr8:143921244	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925261	rs_200012425	3 SubmittersRCV000595482 RCV002062105
NM_201384.3(PLEC):c.5589C>T (p.Asn1863=)	SNV Germline	Chr8:143924340	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4926315	rs_782678351	2 SubmittersRCV000597268 RCV000648626
NM_201384.3(PLEC):c.13308C>T (p.Thr4436=)	SNV Germline	Chr8:143916513	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4923846	rs_782527767	2 SubmittersRCV000597776 RCV001085584
NM_201384.3(PLEC):c.655C>T (p.Leu219=)	SNV Germline	Chr8:143935261	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4928361	rs_370454085	2 SubmittersRCV000591603 RCV001446156
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)	SNV Germline	Chr8:143917566	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4924133	rs_782193445	3 SubmittersRCV000597346 RCV000727532 RCV001089438
NM_201384.3(PLEC):c.10172C>T (p.Ala3391Val)	SNV Germline	Chr8:143919649	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4924731	rs_782323037	2 SubmittersRCV001054285 RCV001697928
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)	SNV Germline	Chr8:143920654	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925052	rs_373831849	5 SubmittersRCV000614106 RCV001065625 RCV003129937 RCV004024970
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)	SNV Germline	Chr8:143920691	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925061	rs_782038680	4 SubmittersRCV000611214 RCV000729222 RCV002528629 RCV004544778
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)	SNV Germline	Chr8:143921619	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4925397	rs_782252692	3 SubmittersRCV000610298 RCV000732804 RCV002063908
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val)	SNV Germline	Chr8:143925709	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4926734	rs_548430154	4 SubmittersRCV000604760 RCV000810548 RCV000999095
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)	SNV Germline	Chr8:143932148	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy not specified Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927719	rs_374590279	5 SubmittersRCV001078776 RCV000616355 RCV000727819 RCV004530744
NM_000445.5(PLEC):c.50A>G (p.Asn17Ser)	SNV Germline	Chr8:143975320	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA372492150	rs_1554745695	2 SubmittersRCV000604252 RCV001343265
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)	SNV Germline	Chr8:143918530	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4924389	rs_368803763	4 SubmittersRCV000608326 RCV001365293 RCV002531166 RCV003133396
NM_201384.3(PLEC):c.10286C>T (p.Ala3429Val)	SNV Germline	Chr8:143919535	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4924701	rs_782556459	2 SubmittersRCV000605096 RCV000806651
NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr)	SNV Germline	Chr8:143920610	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4925036	rs_782624968	2 SubmittersRCV000614142 RCV001855237
NM_201384.3(PLEC):c.8111A>C (p.Lys2704Thr)	SNV Germline	Chr8:143921710	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925417	rs_376577874	3 SubmittersRCV000605089 RCV001429547 RCV003343942
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)	SNV Germline	Chr8:143923460	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications	CA4925977	rs_558775133	3 SubmittersRCV000601790 RCV000819372 RCV003488728
NM_201384.3(PLEC):c.5389C>T (p.Arg1797Cys)	SNV Germline	Chr8:143924540	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4926376	rs_782175669	3 SubmittersRCV001366050 RCV001712678 RCV002528675
NM_201384.3(PLEC):c.4843C>G (p.Gln1615Glu)	SNV Germline	Chr8:143925086	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926523	rs_782766351	3 SubmittersRCV000601864 RCV002529607 RCV001203650
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)	SNV Germline	Chr8:143927432	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4926969	rs_376541112	3 SubmittersRCV000609789 RCV001342076 RCV003133397
NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys)	SNV Germline	Chr8:143927967	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4927136	rs_533410461	5 SubmittersRCV000600621 RCV000874701 RCV001289148 RCV003162735 RCV004533231
NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg)	SNV Germline	Chr8:143929136	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927166	rs_576369528	4 SubmittersRCV000608122 RCV000946059 RCV004584772 RCV004955716
NM_201384.3(PLEC):c.264+4C>T	SNV Germline	Chr8:143938147	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4928556	rs_369467661	2 SubmittersRCV000609020 RCV001247469
NM_201384.3(PLEC):c.7915G>C (p.Glu2639Gln)	SNV Germline	Chr8:143921906	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA372521170	rs_782614096	2 SubmittersRCV000606327 RCV002531612
NM_201384.3(PLEC):c.4137C>T (p.His1379=)	SNV Germline	Chr8:143925792	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4926757	rs_782222813	3 SubmittersRCV000602532 RCV000732096 RCV001438502
NM_201384.3(PLEC):c.3045G>A (p.Pro1015=)	SNV Germline	Chr8:143929450	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4927249	rs_368477108	3 SubmittersRCV000613117 RCV000999098 RCV001440768
NM_201384.3(PLEC):c.1248C>T (p.Asp416=)	SNV Germline	Chr8:143934013	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA4928087	rs_572481168	3 SubmittersRCV000606772 RCV000729419 RCV002064219
NM_201384.3(PLEC):c.1191C>A (p.Ile397=)	SNV Germline	Chr8:143934070	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4928105	rs_781888321	4 SubmittersRCV000602939 RCV000729823 RCV002065428 RCV004530806
NM_201384.3(PLEC):c.12383G>A (p.Arg4128Gln)	SNV Germline	Chr8:143917438	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4924099	rs_533757341	2 SubmittersRCV000615675 RCV001066397
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)	SNV Germline	Chr8:143918187	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4924283	rs_375097273	6 SubmittersRCV000727731 RCV001088412 RCV004543422
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn)	SNV Germline	Chr8:143920705	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4925066	rs_374776968	4 SubmittersRCV000693971 RCV001722597 RCV004024912
NM_201384.3(PLEC):c.9071A>C (p.Asn3024Thr)	SNV Germline	Chr8:143920750	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA372514030	rs_535089650	2 SubmittersRCV000611393 RCV001220720
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)	SNV Germline	Chr8:143921289	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4925273	rs_782732824	3 SubmittersRCV000602974 RCV000648676 RCV000731027
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)	SNV Germline	Chr8:143921646	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA463532414	rs_1209777415	3 SubmittersRCV000611340 RCV001393106 RCV000728762
NM_201384.3(PLEC):c.7468G>C (p.Ala2490Pro)	SNV Germline	Chr8:143922353	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications	CA372525148	rs_1554689498	2 SubmittersRCV000606128 RCV001860281
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)	SNV Germline	Chr8:143922832	Conflicting classifications of pathogenicity	not specified Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4925761	rs_576252504	4 SubmittersRCV000610650 RCV001362332 RCV003129935
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)	SNV Germline	Chr8:143923084	Conflicting classifications of pathogenicity	not specified Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications	CA4925830	rs_782316711	3 SubmittersRCV000602515 RCV000712755 RCV001860323
NM_201384.3(PLEC):c.12747G>A (p.Ser4249=)	SNV Germline	Chr8:143917074	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4923989	rs_782377686	2 SubmittersRCV000648508 RCV002473094
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)	SNV Germline	Chr8:143921079	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q not specified	Criteria Provided Conflicting Classifications	CA4925200	rs_201211875	4 SubmittersRCV000727700 RCV001078944 RCV001662704
NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)	SNV Germline	Chr8:143932690	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4927862	rs_200259757	3 SubmittersRCV000648457 RCV001288678 RCV002530502
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)	SNV Germline	Chr8:143918471	Likely pathogenic	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Single Submitter	CA372491241	rs_1554675388	1 SubmittersRCV000648519
NM_201384.3(PLEC):c.7464G>A (p.Thr2488=)	SNV Germline	Chr8:143922357	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Conflicting Classifications	CA4925611	rs_560896222	2 SubmittersRCV000731254 RCV001084597
NM_201384.3(PLEC):c.7229C>T (p.Ala2410Val)	SNV Germline	Chr8:143922700	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy	Criteria Provided Conflicting Classifications	CA4925721	rs_543422533	2 SubmittersRCV000648698 RCV001078748
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)	SNV Germline	Chr8:143916335	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4923784	rs_782618187	3 SubmittersRCV000648455 RCV000838665
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys)	SNV Germline	Chr8:143922590	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Condition: not provided PLEC-related disorder	Criteria Provided Conflicting Classifications	CA4925684	rs_781936848	3 SubmittersRCV000648651 RCV003129967 RCV004544882
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)	SNV Germline	Chr8:143922831	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications	CA4925760	rs_79489944	4 SubmittersRCV000727714 RCV001503615
NM_201384.3(PLEC):c.6262C>T (p.Arg2088Trp)	SNV Germline	Chr8:143923667	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA4926062	rs_558683670	2 SubmittersRCV000648659 RCV003133459
NM_201384.3(PLEC):c.4800C>T (p.His1600=)	SNV Germline	Chr8:143925129	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Condition: not provided	Criteria Provided Conflicting Classifications	CA4926534	rs_149044728	4 SubmittersRCV000648575 RCV000732228
NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser)	SNV Germline	Chr8:143924402	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_781804005	2 SubmittersRCV000687438 RCV003243250
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys)	SNV Germline	Chr8:143916581	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications		rs_200447944	3 SubmittersRCV000688285 RCV001756168
NM_201384.3(PLEC):c.12222G>A (p.Glu4074=)	SNV Germline	Chr8:143917599	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Condition: not provided	Criteria Provided Conflicting Classifications		rs_782668739	2 SubmittersRCV000687775 RCV001576919
NM_201384.3(PLEC):c.8227G>A (p.Val2743Met)	SNV Germline	Chr8:143921594	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Conflicting Classifications		rs_781889659	2 SubmittersRCV000999088 RCV000705332
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)	SNV Germline	Chr8:143920072	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201349099	6 SubmittersRCV000689349 RCV000712768 RCV002547138
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)	SNV Germline	Chr8:143927966	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375617818	5 SubmittersRCV000694498 RCV000727824 RCV002532268
NM_201384.3(PLEC):c.3261-1G>A	SNV Germline	Chr8:143927993	Likely pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q	Criteria Provided Single Submitter		rs_111730406	1 SubmittersRCV000700614
NM_201384.3(PLEC):c.3501C>T (p.His1167=)	SNV Germline	Chr8:143927665	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type	Criteria Provided Conflicting Classifications		rs_782038506	3 SubmittersRCV000712735 RCV001516909
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)	SNV Germline	Chr8:143929740	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications		rs_369370495	4 SubmittersRCV000712731 RCV001087409 RCV004535768
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr8:143930425	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_372400636	5 SubmittersRCV000712727 RCV001337381 RCV004649296
NM_201384.3(PLEC):c.10208G>A (p.Arg3403Gln)	SNV Germline	Chr8:143919613	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications		rs_369621159	3 SubmittersRCV000727848 RCV001089260
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=)	SNV Germline	Chr8:143917998	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications		rs_201426199	3 SubmittersRCV000727697 RCV002067079 RCV004737979
NM_201384.3(PLEC):c.477G>A (p.Thr159=)	SNV Germline	Chr8:143935973	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications		rs_372111720	2 SubmittersRCV000727704 RCV001399700
NM_201384.3(PLEC):c.3354G>A (p.Val1118=)	SNV Germline	Chr8:143927899	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia PLEC-related disorder	Criteria Provided Conflicting Classifications		rs_375657597	3 SubmittersRCV000727738 RCV001087140 RCV004737980
NM_201384.3(PLEC):c.12861G>A (p.Glu4287=)	SNV Germline	Chr8:143916960	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications		rs_781934861	2 SubmittersRCV000727757 RCV002060963
NM_201384.3(PLEC):c.12711G>A (p.Ser4237=)	SNV Germline	Chr8:143917110	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications		rs_548342396	2 SubmittersRCV000727766 RCV001402775
NM_201384.3(PLEC):c.8391C>T (p.Ile2797=)	SNV Germline	Chr8:143921430	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Conflicting Classifications		rs_200289312	2 SubmittersRCV000727767 RCV001084385
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)	SNV Germline	Chr8:143926873	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type PLEC-related disorder	Criteria Provided Conflicting Classifications		rs_201416081	4 SubmittersRCV000727770 RCV001085171 RCV004535810
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)	SNV Germline	Chr8:143923867	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type PLEC-related disorder not specified	Criteria Provided Conflicting Classifications		rs_367715805	7 SubmittersRCV000727786 RCV001087798 RCV004540030 RCV004997254
NM_201384.3(PLEC):c.9593G>A (p.Arg3198Gln)	SNV Germline	Chr8:143920228	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_559417477	3 SubmittersRCV000727815 RCV001868927 RCV002535049

NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)

SNV
Germline

Chr8:143924012

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Simplex epidermolysis bullosa_Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

CA340759

rs_80338756

8 SubmittersRCV000008751 RCV000519116 RCV001381863 RCV001352838

NM_201384.3(PLEC):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr8:143934923

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia

No Assertion Criteria Provided

CA249458

rs_137853160

1 SubmittersRCV000008753

NM_201384.3(PLEC):c.1263G>A (p.Ser421=)

SNV
Germline

Chr8:143933998

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia

No Assertion Criteria Provided

CA278584

rs_864309672

1 SubmittersRCV000008754

NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)

SNV
Germline

Chr8:143920817

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA249467

rs_137853161

2 SubmittersRCV000008755 RCV001851744

NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)

SNV
Germline

Chr8:143923055

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA249711

rs_387906802

5 SubmittersRCV000023092 RCV001007967 RCV002273816 RCV001387924

NM_201384.3(PLEC):c.946-6T>C

SNV
Germline

Chr8:143934736

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA220835

rs_200168705

2 SubmittersRCV000078831 RCV001078660

NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)

SNV
Germline

Chr8:143919404

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA220836

rs_201765507

6 SubmittersRCV000723747 RCV001088568 RCV004537313

NM_201384.3(PLEC):c.10656G>A (p.Val3552=)

SNV
Germline

Chr8:143919165

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA220845

rs_368312695

4 SubmittersRCV000078834 RCV001088523 RCV004542753

NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)

SNV
Germline

Chr8:143931575

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA220864

rs_200173947

6 SubmittersRCV000078852 RCV000873584 RCV002513828 RCV004537316 RCV004706478

NM_201384.3(PLEC):c.3111C>T (p.Gly1037=)

SNV
Germline

Chr8:143929252

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA220874

rs_398123397

2 SubmittersRCV000078855 RCV002514386

NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)

SNV
Germline

Chr8:143925373

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA220883

rs_182120395

9 SubmittersRCV000078868 RCV000544997 RCV001086335 RCV004737185

NM_201384.3(PLEC):c.4707G>A (p.Thr1569=)

SNV
Germline

Chr8:143925222

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA220892

rs_398123398

2 SubmittersRCV000078872 RCV002514387

NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)

SNV
Germline

Chr8:143923999

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA220937

rs_398123401

6 SubmittersRCV000078884 RCV000554019 RCV002514388 RCV004700388

NM_201384.3(PLEC):c.7821C>T (p.Ala2607=)

SNV
Germline

Chr8:143922000

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA220955

rs_398123402

2 SubmittersRCV000078894 RCV000534108

NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)

SNV
Germline

Chr8:143917206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA154407

rs_202116866

6 SubmittersRCV000117950 RCV000726487 RCV001087438

NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)

SNV
Germline

Chr8:143975237

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA154434

rs_201820569

5 SubmittersRCV000117953 RCV000558023 RCV000725963

NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)

SNV
Germline

Chr8:143922068

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234643

rs_200488179

6 SubmittersRCV000710177 RCV001079339 RCV004737237

NM_201384.3(PLEC):c.12858G>A (p.Thr4286=)

SNV
Germline

Chr8:143916963

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA234598

rs_782480281

2 SubmittersRCV000153731 RCV001850103

NM_201384.3(PLEC):c.10359G>A (p.Lys3453=)

SNV
Germline

Chr8:143919462

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234625

rs_782140099

3 SubmittersRCV000153734 RCV001393749 RCV004532731

NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)

SNV
Germline

Chr8:143921991

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234634

rs_376112916

6 SubmittersRCV000712761 RCV001087716 RCV004544402

NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)

SNV
Germline

Chr8:143925711

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA234661

rs_782584192

3 SubmittersRCV000153740 RCV000723925 RCV001505852

NM_201384.3(PLEC):c.2478C>T (p.Asp826=)

SNV
Germline

Chr8:143930278

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA234688

rs_202135215

6 SubmittersRCV000725198 RCV001083079

NM_201384.3(PLEC):c.933C>T (p.Phe311=)

SNV
Germline

Chr8:143934822

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA239120

rs_369363676

3 SubmittersRCV000173689 RCV001504088

NM_201384.3(PLEC):c.1050G>A (p.Val350=)

SNV
Germline

Chr8:143934437

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA239748

rs_74461721

2 SubmittersRCV000174247 RCV001089305

NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)

SNV
Germline

Chr8:143934329

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA239757

rs_201667254

9 SubmittersRCV000174248 RCV001721103 RCV002516622 RCV000559452 RCV004537363

NM_201384.3(PLEC):c.1461G>A (p.Glu487=)

SNV
Germline

Chr8:143933069

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA240441

rs_782426400

3 SubmittersRCV000174849 RCV002056925

NM_201384.3(PLEC):c.1545C>T (p.Pro515=)

SNV
Germline

Chr8:143932985

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA240450

rs_199968254

4 SubmittersRCV000725385 RCV001087346

NM_201384.3(PLEC):c.2237G>A (p.Arg746His)

SNV
Germline

Chr8:143931601

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA201489

rs_200887085

5 SubmittersRCV000999100 RCV000175499 RCV000555489

NM_201384.3(PLEC):c.2604C>T (p.Ala868=)

SNV
Germline

Chr8:143930152

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA242149

rs_201827413

3 SubmittersRCV000176267 RCV001450221

NM_201384.3(PLEC):c.2458-8C>T

SNV
Germline

Chr8:143930306

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA242158

rs_201818691

5 SubmittersRCV000712728 RCV001080184

NM_201384.3(PLEC):c.2551G>A (p.Val851Met)

SNV
Germline

Chr8:143930205

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA242168

rs_200647397

6 SubmittersRCV000712729 RCV001089444 RCV004539634

NM_201384.3(PLEC):c.2844C>T (p.Pro948=)

SNV
Germline

Chr8:143929725

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA242402

rs_200482255

8 SubmittersRCV000176458 RCV000725509 RCV001086698

NM_201384.3(PLEC):c.2748C>T (p.Thr916=)

SNV
Germline

Chr8:143929821

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA242411

rs_372942259

2 SubmittersRCV000176459 RCV001080178

NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)

SNV
Germline

Chr8:143929517

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA201975

rs_534045685

5 SubmittersRCV000176531 RCV000648652 RCV001697162 RCV003165369 RCV004537405

NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)

SNV
Germline

Chr8:143927435

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA242919

rs_187648086

6 SubmittersRCV000176847 RCV000547452 RCV000724976 RCV004737269

NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)

SNV
Germline

Chr8:143927546

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA202134

rs_146685404

6 SubmittersRCV000176848 RCV000874343 RCV001288289 RCV002517703 RCV004737270

NM_201384.3(PLEC):c.174+10G>A

SNV
Germline

Chr8:143938621

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
not specified

Criteria Provided
Conflicting Classifications

CA243174

rs_181850748

3 SubmittersRCV000177068 RCV001088787 RCV001289141

NM_201384.3(PLEC):c.3948C>T (p.Tyr1316=)

SNV
Germline

Chr8:143926880

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA243703

rs_782715020

2 SubmittersRCV000177514 RCV002054093

NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)

SNV
Germline

Chr8:143922662

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA202537

rs_193257576

10 SubmittersRCV000177598 RCV000712756 RCV001086675 RCV004537437

NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)

SNV
Germline

Chr8:143925090

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA243804

rs_554561043

3 SubmittersRCV000177580 RCV002054098 RCV004537438

NM_201384.3(PLEC):c.4581G>A (p.Ala1527=)

SNV
Germline

Chr8:143925348

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA243813

rs_782459694

2 SubmittersRCV000177581 RCV002054099

NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)

SNV
Germline

Chr8:143923143

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243831

rs_373922545

7 SubmittersRCV000177583 RCV000712754 RCV001088713

NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)

SNV
Germline

Chr8:143925405

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA243840

rs_370168097

6 SubmittersRCV000727685 RCV001087481 RCV001706135

NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)

SNV
Germline

Chr8:143924538

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA243858

rs_551187778

6 SubmittersRCV000725527 RCV001086331 RCV004537439 RCV004998379

NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)

SNV
Germline

Chr8:143925853

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA243885

rs_574482100

7 SubmittersRCV000415901 RCV001199099 RCV001088471 RCV004737272

NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)

SNV
Germline

Chr8:143923707

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243894

rs_370347438

4 SubmittersRCV000724805 RCV001087368

NM_201384.3(PLEC):c.6303G>A (p.Glu2101=)

SNV
Germline

Chr8:143923626

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA243939

rs_781833947

2 SubmittersRCV000177609 RCV001088939

NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)

SNV
Germline

Chr8:143924133

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243948

rs_375568532

5 SubmittersRCV000725386 RCV001079141

NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)

SNV
Germline

Chr8:143922735

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243957

rs_541134948

3 SubmittersRCV000177611 RCV001088128

NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)

SNV
Germline

Chr8:143924905

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA243966

rs_370569372

9 SubmittersRCV000545545 RCV000724193 RCV003987424

NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)

SNV
Germline

Chr8:143925696

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243975

rs_2855760

4 SubmittersRCV000724191 RCV001085664

NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)

SNV
Germline

Chr8:143923335

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243984

rs_144242254

8 SubmittersRCV000177614 RCV000585322 RCV001084155

NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)

SNV
Germline

Chr8:143922546

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243993

rs_371673069

5 SubmittersRCV000705315 RCV000724247 RCV002516743

NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)

SNV
Germline

Chr8:143923393

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244002

rs_117962829

6 SubmittersRCV000554395 RCV000724990 RCV002517719 RCV004537440

NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)

SNV
Germline

Chr8:143922867

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244011

rs_375587611

6 SubmittersRCV000724225 RCV001083171 RCV004700540 RCV004737273

NM_201384.3(PLEC):c.7188G>A (p.Gln2396=)

SNV
Germline

Chr8:143922741

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244029

rs_374517570

2 SubmittersRCV000177619 RCV001433609

NM_201384.3(PLEC):c.6162C>T (p.His2054=)

SNV
Germline

Chr8:143923767

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202564

rs_563719398

5 SubmittersRCV000177620 RCV000528561 RCV001704845

NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met)

SNV
Germline

Chr8:143924056

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244047

rs_200715520

4 SubmittersRCV000177622 RCV001085671

NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)

SNV
Germline

Chr8:143923981

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244056

rs_527947459

4 SubmittersRCV000177623 RCV001088197 RCV004955300

NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)

SNV
Germline

Chr8:143922828

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244065

rs_202132558

4 SubmittersRCV000177624 RCV001082061 RCV004737274

NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)

SNV
Germline

Chr8:143924458

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 1
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244092

rs_542642242

9 SubmittersRCV000177628 RCV000785605 RCV001086527 RCV001704846 RCV002516745 RCV004537442

NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)

SNV
Germline

Chr8:143923731

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244101

rs_201574539

5 SubmittersRCV000177629 RCV000724739 RCV001083891 RCV004537443

NM_201384.3(PLEC):c.8607G>A (p.Glu2869=)

SNV
Germline

Chr8:143921214

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244195

rs_200819891

2 SubmittersRCV000177677 RCV001088452

NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)

SNV
Germline

Chr8:143916750

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA244226

rs_202153947

4 SubmittersRCV000177685 RCV001078550

NM_201384.3(PLEC):c.13533C>T (p.Ser4511=)

SNV
Germline

Chr8:143916288

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244235

rs_782669579

2 SubmittersRCV000177686 RCV002054100

NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)

SNV
Germline

Chr8:143921315

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244253

rs_200814155

8 SubmittersRCV000723606 RCV001082916 RCV004537445 RCV004020114

NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)

SNV
Germline

Chr8:143919323

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244271

rs_200541837

5 SubmittersRCV000177690 RCV000537688 RCV001704847 RCV004737276

NM_201384.3(PLEC):c.10533C>G (p.Gly3511=)

SNV
Germline

Chr8:143919288

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244280

rs_782720434

2 SubmittersRCV000177691 RCV003765096

NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)

SNV
Germline

Chr8:143921770

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 1
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244298

rs_200239963

7 SubmittersRCV000177693 RCV000725505 RCV000785606 RCV001080318 RCV004528946

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

SNV
Germline

Chr8:143920488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA244307

rs_188739870

8 SubmittersRCV000177694 RCV000512985 RCV001082161

NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)

SNV
Germline

Chr8:143917631

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244316

rs_200206105

7 SubmittersRCV000177695 RCV000724010 RCV001083840 RCV004737277

NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)

SNV
Germline

Chr8:143918614

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA244352

rs_77146441

6 SubmittersRCV000557331 RCV000585029

NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)

SNV
Germline

Chr8:143918492

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244361

rs_538589589

7 SubmittersRCV000177700 RCV000546144 RCV002516747

NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)

SNV
Germline

Chr8:143919614

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244397

rs_542488020

5 SubmittersRCV000177704 RCV001218004 RCV003278679

NM_201384.3(PLEC):c.11724G>T (p.Ala3908=)

SNV
Germline

Chr8:143918097

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244415

rs_374595008

3 SubmittersRCV000177706 RCV001450635 RCV004737279

NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)

SNV
Germline

Chr8:143916534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244424

rs_782581005

3 SubmittersRCV000177707 RCV000724724 RCV001430462

NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)

SNV
Germline

Chr8:143919408

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA244433

rs_782728053

3 SubmittersRCV000533228 RCV000724524

NM_201384.3(PLEC):c.9567G>A (p.Pro3189=)

SNV
Germline

Chr8:143920254

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244442

rs_367761849

2 SubmittersRCV000177709 RCV001475027

NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)

SNV
Germline

Chr8:143920787

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244451

rs_200898220

6 SubmittersRCV000177710 RCV000648559 RCV000724970 RCV004537446

NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)

SNV
Germline

Chr8:143921204

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244460

rs_377748878

4 SubmittersRCV000177711 RCV000724581 RCV000799044 RCV004955301

NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)

SNV
Germline

Chr8:143920772

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244469

rs_201041716

6 SubmittersRCV000177712 RCV000537168 RCV003165372

NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)

SNV
Germline

Chr8:143916843

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244487

rs_781832846

3 SubmittersRCV000177714 RCV001078561 RCV004537447

NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)

SNV
Germline

Chr8:143920346

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244496

rs_201030020

6 SubmittersRCV000712767 RCV001087645 RCV002516748

NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)

SNV
Germline

Chr8:143917150

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244523

rs_368212208

6 SubmittersRCV000177718 RCV000526784 RCV003362714

NM_201384.3(PLEC):c.7911G>A (p.Ala2637=)

SNV
Germline

Chr8:143921910

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244550

rs_372688821

2 SubmittersRCV000177721 RCV002054101

NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)

SNV
Germline

Chr8:143918248

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244559

rs_373863249

5 SubmittersRCV000177722 RCV001078692 RCV004737280

NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)

SNV
Germline

Chr8:143916710

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA244577

rs_200361523

7 SubmittersRCV000540878 RCV000725165 RCV002516749 RCV004700541

NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)

SNV
Germline

Chr8:143921999

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244622

rs_199995144

6 SubmittersRCV000724784 RCV000816099 RCV002517720

NM_201384.3(PLEC):c.9153C>T (p.Ser3051=)

SNV
Germline

Chr8:143920668

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA244631

rs_200231367

2 SubmittersRCV000177730 RCV001089403

NM_201384.3(PLEC):c.46C>T (p.Arg16Ter)

SNV
Germline

Chr8:143939416

Pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA249859

rs_374419983

3 SubmittersRCV000186559 RCV001092984 RCV003338451

NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr)

SNV
Germline

Chr8:143923616

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA207236

rs_781931836

3 SubmittersRCV000193631 RCV000724939 RCV001088606

NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)

SNV
Germline

Chr8:143924168

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA208198

rs_201278290

5 SubmittersRCV000194194 RCV000513011 RCV001087077

NM_201384.3(PLEC):c.6921G>A (p.Leu2307=)

SNV
Germline

Chr8:143923008

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10603822

rs_886044772

2 SubmittersRCV000374824 RCV001436349

NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)

SNV
Germline

Chr8:143923324

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925932

rs_201928401

5 SubmittersRCV000725397 RCV001227994 RCV002521870

NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)

SNV
Germline

Chr8:143920976

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925162

rs_202241157

5 SubmittersRCV000317893 RCV000648499 RCV000725398 RCV002519086

NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)

SNV
Germline

Chr8:143932422

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927778

rs_190470017

5 SubmittersRCV000362885 RCV000724833 RCV001083617 RCV004542976

NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)

SNV
Germline

Chr8:143918297

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924328

rs_187011732

5 SubmittersRCV000278084 RCV000725153 RCV001086289 RCV004542977

NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)

SNV
Germline

Chr8:143921161

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925226

rs_201655861

6 SubmittersRCV000335436 RCV000724835 RCV001083618 RCV004021074 RCV004542978

NM_201384.3(PLEC):c.12876G>A (p.Val4292=)

SNV
Germline

Chr8:143916945

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923960

rs_199509259

4 SubmittersRCV000373869 RCV000724836 RCV001088533 RCV004535254

NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)

SNV
Germline

Chr8:143918896

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924497

rs_782531580

5 SubmittersRCV000576206 RCV000724841

NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)

SNV
Germline

Chr8:143925483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926655

rs_782202249

5 SubmittersRCV000375878 RCV000712740 RCV001078715

NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)

SNV
Germline

Chr8:143916639

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923893

rs_373958891

4 SubmittersRCV000370598 RCV001087386 RCV004542980

NM_201384.3(PLEC):c.381C>T (p.Asp127=)

SNV
Germline

Chr8:143937033

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928463

rs_185041864

2 SubmittersRCV000327519 RCV001463044

NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)

SNV
Germline

Chr8:143925342

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926607

rs_369723574

3 SubmittersRCV000294849 RCV001087502 RCV004535257

NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)

SNV
Germline

Chr8:143924442

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926347

rs_781998103

4 SubmittersRCV000724890 RCV001088980

NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val)

SNV
Germline

Chr8:143921620

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925398

rs_200202579

6 SubmittersRCV000347875 RCV000543307 RCV004535261 RCV004021081 RCV001718569

NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)

SNV
Germline

Chr8:143918210

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924292

rs_201419047

5 SubmittersRCV000319680 RCV000545914 RCV001705406 RCV002518827

NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)

SNV
Germline

Chr8:143917346

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924076

rs_201069314

6 SubmittersRCV000300593 RCV001087007 RCV004542991 RCV004021085

NM_201384.3(PLEC):c.772C>T (p.Leu258=)

SNV
Germline

Chr8:143935064

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928321

rs_372233686

3 SubmittersRCV000305848 RCV000726201 RCV001081249

NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)

SNV
Germline

Chr8:143919105

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924555

rs_34365303

3 SubmittersRCV000724943 RCV001087284

NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)

SNV
Germline

Chr8:143924702

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926400

rs_781946435

7 SubmittersRCV000724944 RCV001082726

NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)

SNV
Germline

Chr8:143916474

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923834

rs_368660987

5 SubmittersRCV000264142 RCV000724963 RCV001426930 RCV004021090 RCV004535265

NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)

SNV
Germline

Chr8:143917977

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924233

rs_782025071

5 SubmittersRCV000298250 RCV000724975 RCV001088775 RCV004021091

NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)

SNV
Germline

Chr8:143930279

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927503

rs_369344419

5 SubmittersRCV000389873 RCV001082840

NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)

SNV
Germline

Chr8:143921022

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925181

rs_371751910

3 SubmittersRCV000288479 RCV001080537

NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)

SNV
Germline

Chr8:143924598

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926389

rs_774270631

5 SubmittersRCV000725003 RCV001069615

NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)

SNV
Germline

Chr8:143920263

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924931

rs_201102719

4 SubmittersRCV000309430 RCV001085355 RCV004535269

NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)

SNV
Germline

Chr8:143917038

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923980

rs_377524932

3 SubmittersRCV000290169 RCV001086872 RCV004535273

NM_201384.3(PLEC):c.2580G>A (p.Pro860=)

SNV
Germline

Chr8:143930176

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927471

rs_782468518

3 SubmittersRCV000347306 RCV001467658

NM_201384.3(PLEC):c.2661C>T (p.His887=)

SNV
Germline

Chr8:143930014

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927425

rs_782806801

2 SubmittersRCV000310025 RCV001497674

NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)

SNV
Germline

Chr8:143916312

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923772

rs_190789703

5 SubmittersRCV000325469 RCV001084111 RCV004535275

NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)

SNV
Germline

Chr8:143929486

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927262

rs_376276993

3 SubmittersRCV000316140 RCV001079291 RCV004535277

NM_201384.3(PLEC):c.11164C>T (p.Leu3722=)

SNV
Germline

Chr8:143918657

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924416

rs_375598997

2 SubmittersRCV000276485 RCV001081015

NM_201384.3(PLEC):c.11910G>A (p.Gln3970=)

SNV
Germline

Chr8:143917911

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924220

rs_782710557

2 SubmittersRCV000324550 RCV001080655

NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)

SNV
Germline

Chr8:143922808

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925751

rs_201417343

8 SubmittersRCV000271394 RCV000702838 RCV001331247

NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)

SNV
Germline

Chr8:143919300

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924622

rs_201905804

3 SubmittersRCV000264887 RCV001086942 RCV004535280

NM_201384.3(PLEC):c.4626G>A (p.Arg1542=)

SNV
Germline

Chr8:143925303

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926600

rs_782125781

2 SubmittersRCV000351670 RCV003765592

NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)

SNV
Germline

Chr8:143922294

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925595

rs_782605503

3 SubmittersRCV000265742 RCV001088180 RCV004999205

NM_201384.3(PLEC):c.1263+8G>A

SNV
Germline

Chr8:143933990

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604172

rs_545715431

2 SubmittersRCV000288206 RCV001084877

NM_201384.3(PLEC):c.1263+7G>C

SNV
Germline

Chr8:143933991

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928077

rs_564072063

2 SubmittersRCV000339821 RCV001082651

NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)

SNV
Germline

Chr8:143927878

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA10604173

rs_782733038

3 SubmittersRCV000275640 RCV001491406

NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)

SNV
Germline

Chr8:143921124

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925215

rs_200383203

4 SubmittersRCV000349059 RCV001086252

NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)

SNV
Germline

Chr8:143919312

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924626

rs_189859084

3 SubmittersRCV000397150 RCV000725096 RCV001088717

NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)

SNV
Germline

Chr8:143925074

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926521

rs_782026068

5 SubmittersRCV000527679 RCV000725097 RCV002518856

NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)

SNV
Germline

Chr8:143927885

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927108

rs_376494828

6 SubmittersRCV000300309 RCV001088726 RCV004021109 RCV004737401

NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)

SNV
Germline

Chr8:143916579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923872

rs_200589588

6 SubmittersRCV000292376 RCV000725101 RCV001087532 RCV004955369

NM_201384.3(PLEC):c.9150A>G (p.Pro3050=)

SNV
Germline

Chr8:143920671

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925057

rs_782341043

2 SubmittersRCV000279513 RCV001079158

NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)

SNV
Germline

Chr8:143919519

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924690

rs_199879193

5 SubmittersRCV000725108 RCV001086383 RCV004737402

NM_201384.3(PLEC):c.3513C>T (p.Asp1171=)

SNV
Germline

Chr8:143927653

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927035

rs_377035218

3 SubmittersRCV000361104 RCV001078511

NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)

SNV
Germline

Chr8:143920527

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925011

rs_376753842

5 SubmittersRCV000288880 RCV001080764

NM_201384.3(PLEC):c.4407C>T (p.Gly1469=)

SNV
Germline

Chr8:143925522

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926672

rs_376374602

2 SubmittersRCV000324136 RCV001488357

NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)

SNV
Germline

Chr8:143921177

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925229

rs_376081492

5 SubmittersRCV000325591 RCV001478103 RCV004737403

NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)

SNV
Germline

Chr8:143924296

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926289

rs_373617951

6 SubmittersRCV000416273 RCV000687205 RCV004955370

NM_201384.3(PLEC):c.1245C>G (p.Ala415=)

SNV
Germline

Chr8:143934016

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928094

rs_782527499

3 SubmittersRCV000325657 RCV001423299

NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)

SNV
Germline

Chr8:143925578

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926691

rs_868906137

7 SubmittersRCV000534113 RCV000725142 RCV002288959 RCV004737404

NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)

SNV
Germline

Chr8:143919078

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924543

rs_375573910

5 SubmittersRCV000298540 RCV000555102

NM_201384.3(PLEC):c.11373C>T (p.Ile3791=)

SNV
Germline

Chr8:143918448

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924365

rs_782573219

2 SubmittersRCV000276264 RCV002521889

NM_201384.3(PLEC):c.13485C>T (p.Thr4495=)

SNV
Germline

Chr8:143916336

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4923785

rs_782206765

2 SubmittersRCV000327536 RCV001397557

NM_201384.3(PLEC):c.10458C>T (p.Asp3486=)

SNV
Germline

Chr8:143919363

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924646

rs_372064842

2 SubmittersRCV000312939 RCV001088489

NM_201384.3(PLEC):c.4488C>T (p.Ala1496=)

SNV
Germline

Chr8:143925441

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926643

rs_374108886

2 SubmittersRCV000265218 RCV001078749

NM_201384.3(PLEC):c.540C>T (p.Cys180=)

SNV
Germline

Chr8:143935910

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4928410

rs_189256993

6 SubmittersRCV000710176 RCV001087405 RCV004737405 RCV004999207

NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)

SNV
Germline

Chr8:143917467

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924109

rs_782692436

4 SubmittersRCV000725156 RCV001082017 RCV004543012

NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)

SNV
Germline

Chr8:143918400

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924355

rs_782144786

3 SubmittersRCV000263823 RCV001461679 RCV004543013

NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)

SNV
Germline

Chr8:143929177

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927178

rs_782437578

4 SubmittersRCV000272649 RCV001083965 RCV000725170

NM_201384.3(PLEC):c.10740C>T (p.His3580=)

SNV
Germline

Chr8:143919081

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924545

rs_201867859

2 SubmittersRCV000406695 RCV001086463

NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)

SNV
Germline

Chr8:143923761

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926090

rs_370313601

3 SubmittersRCV000299343 RCV000725175 RCV001859566

NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)

SNV
Germline

Chr8:143919093

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924551

rs_372840016

4 SubmittersRCV000306155 RCV000725197 RCV001078899

NM_201384.3(PLEC):c.12717C>T (p.Asn4239=)

SNV
Germline

Chr8:143917104

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924001

rs_184192014

2 SubmittersRCV000354979 RCV001083736

NM_201384.3(PLEC):c.2785C>T (p.Leu929=)

SNV
Germline

Chr8:143929784

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927343

rs_369676162

5 SubmittersRCV000315590 RCV000725207 RCV001088336 RCV004535291

NM_201384.3(PLEC):c.4077C>T (p.Arg1359=)

SNV
Germline

Chr8:143925852

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926775

rs_553047216

2 SubmittersRCV000272941 RCV000805045

NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)

SNV
Germline

Chr8:143922847

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925765

rs_369522291

5 SubmittersRCV000340103 RCV001045422 RCV002518874

NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)

SNV
Germline

Chr8:143918744

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924441

rs_369497741

8 SubmittersRCV000342261 RCV000725240 RCV001731558 RCV001088184 RCV004021125

NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)

SNV
Germline

Chr8:143916371

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923805

rs_782650176

5 SubmittersRCV000712724 RCV001088628 RCV004021126

NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)

SNV
Germline

Chr8:143927578

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927014

rs_377059744

5 SubmittersRCV000512702 RCV001086751

NM_201384.3(PLEC):c.12627C>T (p.Ile4209=)

SNV
Germline

Chr8:143917194

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924036

rs_372573622

3 SubmittersRCV000295705 RCV001085753

NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)

SNV
Germline

Chr8:143917578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924141

rs_185022156

8 SubmittersRCV000297406 RCV000585456 RCV001083844 RCV004543022

NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)

SNV
Germline

Chr8:143916612

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923883

rs_200338374

4 SubmittersRCV000261916 RCV001087033 RCV001731559

NM_201384.3(PLEC):c.10779G>A (p.Ser3593=)

SNV
Germline

Chr8:143919042

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924537

rs_375360480

2 SubmittersRCV000317097 RCV001088588

NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)

SNV
Germline

Chr8:143923689

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926073

rs_576688705

4 SubmittersRCV000286234 RCV000725278 RCV001080282

NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)

SNV
Germline

Chr8:143925795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926758

rs_558224639

3 SubmittersRCV000361822 RCV000725293 RCV001087599

NM_201384.3(PLEC):c.13068C>T (p.Phe4356=)

SNV
Germline

Chr8:143916753

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4923913

rs_2855765

2 SubmittersRCV000261616 RCV001085469

NM_201384.3(PLEC):c.8505C>T (p.Phe2835=)

SNV
Germline

Chr8:143921316

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925285

rs_782326556

2 SubmittersRCV000260113 RCV001088842

NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)

SNV
Germline

Chr8:143923151

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925865

rs_371763907

4 SubmittersRCV000328457 RCV000545783

NM_201384.3(PLEC):c.9828G>A (p.Thr3276=)

SNV
Germline

Chr8:143919993

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924840

rs_201736785

2 SubmittersRCV000279723 RCV001455487

NM_201384.3(PLEC):c.12438C>T (p.Pro4146=)

SNV
Germline

Chr8:143917383

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604557

rs_781866639

2 SubmittersRCV000347877 RCV002521908

NM_201384.3(PLEC):c.3045G>T (p.Pro1015=)

SNV
Germline

Chr8:143929450

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604562

rs_368477108

2 SubmittersRCV000267240 RCV001493456

NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)

SNV
Germline

Chr8:143925460

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926649

rs_371290504

5 SubmittersRCV000364557 RCV001061859

NM_201384.3(PLEC):c.366T>C (p.Asn122=)

SNV
Germline

Chr8:143937048

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928466

rs_782096761

3 SubmittersRCV000298683 RCV001427383

NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)

SNV
Germline

Chr8:143921838

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925460

rs_376058402

3 SubmittersRCV000725322 RCV001079511

NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)

SNV
Germline

Chr8:143917103

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924000

rs_201688261

5 SubmittersRCV000648536 RCV000725329

NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)

SNV
Germline

Chr8:143923833

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926111

rs_564245730

5 SubmittersRCV000298792 RCV000725349 RCV001089057 RCV004543034

NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)

SNV
Germline

Chr8:143921755

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925429

rs_782161008

3 SubmittersRCV000314788 RCV000725362 RCV000554534

NM_201384.3(PLEC):c.5787G>A (p.Ala1929=)

SNV
Germline

Chr8:143924142

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926238

rs_368886943

2 SubmittersRCV000357581 RCV001413979

NM_201384.3(PLEC):c.1650C>T (p.Ser550=)

SNV
Germline

Chr8:143932880

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927907

rs_541271992

3 SubmittersRCV000276882 RCV000725363 RCV001078989

NM_201384.3(PLEC):c.9315C>T (p.Tyr3105=)

SNV
Germline

Chr8:143920506

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604643

rs_886044818

2 SubmittersRCV000283619 RCV002059141

NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)

SNV
Germline

Chr8:143921325

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925288

rs_369013440

3 SubmittersRCV000262071 RCV001088900 RCV004535310

NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)

SNV
Germline

Chr8:143923830

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926108

rs_375465011

6 SubmittersRCV000725367 RCV001083637 RCV004543035

NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)

SNV
Germline

Chr8:143923961

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926163

rs_201588551

7 SubmittersRCV000342524 RCV000648497 RCV001808730 RCV004737410

NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)

SNV
Germline

Chr8:143921059

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925193

rs_191036710

6 SubmittersRCV000337095 RCV000648496 RCV001808731 RCV004737411

NM_201384.3(PLEC):c.7083G>A (p.Thr2361=)

SNV
Germline

Chr8:143922846

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925764

rs_780337094

2 SubmittersRCV000265743 RCV001443044

NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)

SNV
Germline

Chr8:143920740

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925079

rs_199758196

7 SubmittersRCV000725424 RCV001081883 RCV004535317

NM_201384.3(PLEC):c.2775C>T (p.Ala925=)

SNV
Germline

Chr8:143929794

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927344

rs_201202488

4 SubmittersRCV000725425 RCV001087328

NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)

SNV
Germline

Chr8:143924409

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926339

rs_374790646

4 SubmittersRCV000725458 RCV001080163

NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)

SNV
Germline

Chr8:143919663

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924736

rs_373820763

4 SubmittersRCV000286049 RCV001080505

NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)

SNV
Germline

Chr8:143922709

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925722

rs_782618396

5 SubmittersRCV000725470 RCV000819705 RCV004543046

NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)

SNV
Germline

Chr8:143920129

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924885

rs_377610697

6 SubmittersRCV000725484 RCV001078905 RCV003243040 RCV004543049

NM_201384.3(PLEC):c.1878T>A (p.Thr626=)

SNV
Germline

Chr8:143932499

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927805

rs_377039110

3 SubmittersRCV000316432 RCV001088096

NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)

SNV
Germline

Chr8:143924055

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926206

rs_185082202

4 SubmittersRCV000280542 RCV001081127 RCV004535327

NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)

SNV
Germline

Chr8:143920103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924877

rs_75857070

5 SubmittersRCV000270984 RCV000537651 RCV001079482 RCV004535330

NM_201384.3(PLEC):c.10173G>A (p.Ala3391=)

SNV
Germline

Chr8:143919648

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924730

rs_549730049

2 SubmittersRCV000281778 RCV001455937

NM_201384.3(PLEC):c.10074C>T (p.Ala3358=)

SNV
Germline

Chr8:143919747

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924765

rs_782741359

2 SubmittersRCV000401434 RCV001431829

NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)

SNV
Germline

Chr8:143916342

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923790

rs_781929758

6 SubmittersRCV000725567 RCV001084891

NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)

SNV
Germline

Chr8:143923503

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925999

rs_200062782

7 SubmittersRCV000340729 RCV001082281 RCV004999225

NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)

SNV
Germline

Chr8:143921379

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925310

rs_186703073

4 SubmittersRCV000299270 RCV001086490 RCV004543062

NM_201384.3(PLEC):c.5301G>T (p.Leu1767=)

SNV
Germline

Chr8:143924628

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926391

rs_782513203

2 SubmittersRCV000394335 RCV001088562

NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)

SNV
Germline

Chr8:143917605

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924149

rs_150427959

5 SubmittersRCV000725766 RCV001088375 RCV004737415

NM_201384.3(PLEC):c.2458-7G>A

SNV
Germline

Chr8:143930305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927507

rs_372799330

5 SubmittersRCV000304342 RCV000725774 RCV001083481

NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)

SNV
Germline

Chr8:143918403

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
not specified

Criteria Provided
Conflicting Classifications

CA4924357

rs_559510708

3 SubmittersRCV000363730 RCV001087000 RCV001288675

NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)

SNV
Germline

Chr8:143925519

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926670

rs_782222671

5 SubmittersRCV000287855 RCV001083384 RCV001197632 RCV004535360

NM_201384.3(PLEC):c.390C>T (p.Pro130=)

SNV
Germline

Chr8:143937024

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928462

rs_782187697

2 SubmittersRCV000319055 RCV002519218

NM_201384.3(PLEC):c.4392C>T (p.Thr1464=)

SNV
Germline

Chr8:143925537

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926677

rs_372029672

2 SubmittersRCV000367453 RCV001078941

NM_201384.3(PLEC):c.4089C>T (p.Ala1363=)

SNV
Germline

Chr8:143925840

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA10605512

rs_886044855

2 SubmittersRCV000260762 RCV003765643

NM_201384.3(PLEC):c.11355C>T (p.Ala3785=)

SNV
Germline

Chr8:143918466

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA10605514

rs_886044856

2 SubmittersRCV000286763 RCV001089290

NM_201384.3(PLEC):c.4728G>A (p.Ala1576=)

SNV
Germline

Chr8:143925201

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926555

rs_545266312

2 SubmittersRCV000314896 RCV001078987

NM_201384.3(PLEC):c.10869C>T (p.Ile3623=)

SNV
Germline

Chr8:143918952

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924511

rs_371565831

2 SubmittersRCV000357961 RCV001081411

NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)

SNV
Germline

Chr8:143923681

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926068

rs_781878105

11 SubmittersRCV000352378 RCV000725974 RCV001079892 RCV001331245 RCV004737420

NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)

SNV
Germline

Chr8:143933332

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928029

rs_200893203

3 SubmittersRCV000263573 RCV001088725 RCV004543102

NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)

SNV
Germline

Chr8:143916351

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923796

rs_531535217

3 SubmittersRCV000368664 RCV003103754 RCV004543103

NM_201384.3(PLEC):c.13023G>A (p.Val4341=)

SNV
Germline

Chr8:143916798

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923922

rs_567904252

3 SubmittersRCV000349485 RCV001398369

NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)

SNV
Germline

Chr8:143921505

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925362

rs_782420340

4 SubmittersRCV000272326 RCV000726057 RCV001088535

NM_201384.3(PLEC):c.6249G>A (p.Ala2083=)

SNV
Germline

Chr8:143923680

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926067

rs_377026986

2 SubmittersRCV000405308 RCV001089059

NM_201384.3(PLEC):c.1737+9C>T

SNV
Germline

Chr8:143932784

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927885

rs_371976170

2 SubmittersRCV000309859 RCV000648634

NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)

SNV
Germline

Chr8:143916350

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923795

rs_782756146

6 SubmittersRCV000402032 RCV003165766 RCV000726265 RCV001039102

NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)

SNV
Germline

Chr8:143922749

Pathogenic

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606513

rs_886044894

3 SubmittersRCV000627224 RCV002518096

NM_201384.3(PLEC):c.10602C>T (p.Pro3534=)

SNV
Germline

Chr8:143919219

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924594

rs_782052487

2 SubmittersRCV000296312 RCV001080652

NM_201384.3(PLEC):c.5556G>A (p.Ala1852=)

SNV
Germline

Chr8:143924373

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926326

rs_782115169

2 SubmittersRCV000366793 RCV002059285

NM_201384.3(PLEC):c.8952C>T (p.Ala2984=)

SNV
Germline

Chr8:143920869

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925127

rs_371672166

2 SubmittersRCV000390852 RCV001086244

NM_201384.3(PLEC):c.12999C>T (p.Thr4333=)

SNV
Germline

Chr8:143916822

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923928

rs_782592963

2 SubmittersRCV000294351 RCV001082349

NM_201384.3(PLEC):c.963C>T (p.Phe321=)

SNV
Germline

Chr8:143934713

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928228

rs_368425406

4 SubmittersRCV000375820 RCV001079033 RCV001288672 RCV004543137

NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr8:143927633

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927030

rs_782590380

5 SubmittersRCV000278926 RCV000793112 RCV004999248 RCV004955389

NM_201384.3(PLEC):c.3780C>T (p.Arg1260=)

SNV
Germline

Chr8:143927312

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926932

rs_201737115

2 SubmittersRCV000351123 RCV001086526

NM_201384.3(PLEC):c.10116C>T (p.Tyr3372=)

SNV
Germline

Chr8:143919705

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924749

rs_370643130

2 SubmittersRCV000354547 RCV002518141

NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)

SNV
Germline

Chr8:143922080

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925528

rs_782485083

5 SubmittersRCV000399731 RCV000696993 RCV004955393

NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)

SNV
Germline

Chr8:143924900

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926453

rs_373952777

6 SubmittersRCV000415816 RCV001088925 RCV004659020

NM_201384.3(PLEC):c.11438G>A (p.Arg3813His)

SNV
Germline

Chr8:143918383

Conflicting classifications of pathogenicity

not specified
PLEC-related epidermolysis bullosa
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924351

rs_782311906

3 SubmittersRCV000441095 RCV001270892 RCV000793945 RCV003985085

NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)

SNV
Germline

Chr8:143918533

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924391

rs_377598440

4 SubmittersRCV000443829 RCV000820018 RCV003129858 RCV003258811

NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)

SNV
Germline

Chr8:143919362

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924645

rs_202001247

4 SubmittersRCV001042687 RCV001703823 RCV002525364

NM_201384.3(PLEC):c.9071A>G (p.Asn3024Ser)

SNV
Germline

Chr8:143920750

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925087

rs_535089650

3 SubmittersRCV000434185 RCV000547493 RCV004022439

NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)

SNV
Germline

Chr8:143921895

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925477

rs_201098035

4 SubmittersRCV000725544 RCV002059577

NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)

SNV
Germline

Chr8:143922336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925606

rs_542567139

3 SubmittersRCV000437922 RCV000733714 RCV001078563

NM_201384.3(PLEC):c.7441C>G (p.Gln2481Glu)

SNV
Germline

Chr8:143922380

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925615

rs_782016209

3 SubmittersRCV000648568 RCV001704300 RCV002521774

NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)

SNV
Germline

Chr8:143916185

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923741

rs_573424409

6 SubmittersRCV000422312 RCV000705982 RCV000725526 RCV004022470

NM_201384.3(PLEC):c.11752A>G (p.Ile3918Val)

SNV
Germline

Chr8:143918069

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924253

rs_574764116

2 SubmittersRCV000434297 RCV002524850

NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)

SNV
Germline

Chr8:143918785

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924452

rs_200060757

3 SubmittersRCV000725675 RCV000797131

NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)

SNV
Germline

Chr8:143919716

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924751

rs_201373953

7 SubmittersRCV000426757 RCV000548134 RCV001087699 RCV001354949 RCV002521785 RCV004533057

NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)

SNV
Germline

Chr8:143920909

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925140

rs_552713184

3 SubmittersRCV000445189 RCV001215225 RCV003133257

NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)

SNV
Germline

Chr8:143921208

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925249

rs_35821434

6 SubmittersRCV000726443 RCV001087715 RCV004737482

NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)

SNV
Germline

Chr8:143921340

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925294

rs_377660488

3 SubmittersRCV000445108 RCV000727711 RCV001435824

NM_201384.3(PLEC):c.4978G>A (p.Ala1660Thr)

SNV
Germline

Chr8:143924951

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926478

rs_781997708

2 SubmittersRCV000419056 RCV001861552

NM_201384.3(PLEC):c.1977+7G>A

SNV
Germline

Chr8:143932393

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927764

rs_184363750

3 SubmittersRCV000439993 RCV000726284 RCV001079798

NM_201384.3(PLEC):c.885G>A (p.Met295Ile)

SNV
Germline

Chr8:143934870

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4928270

rs_201041690

4 SubmittersRCV000648492 RCV001704330 RCV004022409

NM_201384.3(PLEC):c.825C>T (p.Asn275=)

SNV
Germline

Chr8:143935011

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4928308

rs_113133985

3 SubmittersRCV000543888 RCV000727353

NM_201384.3(PLEC):c.11539G>A (p.Val3847Met)

SNV
Germline

Chr8:143918282

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924323

rs_201654895

3 SubmittersRCV000418111 RCV000795473 RCV003133261

NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val)

SNV
Germline

Chr8:143919124

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924560

rs_782700068

4 SubmittersRCV000421027 RCV000558912 RCV004022436 RCV004737484

NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)

SNV
Germline

Chr8:143919892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924810

rs_183230983

5 SubmittersRCV000435977 RCV000726574 RCV000819333 RCV002524872

NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)

SNV
Germline

Chr8:143920108

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924879

rs_782085661

3 SubmittersRCV000443980 RCV000706705 RCV003129859

NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)

SNV
Germline

Chr8:143924067

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926210

rs_550994317

3 SubmittersRCV000437259 RCV000731452 RCV001087920

NM_201384.3(PLEC):c.4586G>A (p.Arg1529His)

SNV
Germline

Chr8:143925343

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA16605449

rs_1057520714

2 SubmittersRCV000436465 RCV001315527

NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)

SNV
Germline

Chr8:143929533

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927274

rs_367627441

4 SubmittersRCV000444396 RCV000686363 RCV000726447 RCV003168674

NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)

SNV
Germline

Chr8:143916240

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923755

rs_562934299

3 SubmittersRCV000417823 RCV000876719 RCV001415694

NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)

SNV
Germline

Chr8:143917257

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924052

rs_140191309

4 SubmittersRCV000429316 RCV000728337 RCV001078581 RCV004737487

NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln)

SNV
Germline

Chr8:143918086

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924258

rs_781960031

3 SubmittersRCV000648542 RCV001703486

NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)

SNV
Germline

Chr8:143918183

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924281

rs_541209817

4 SubmittersRCV000437288 RCV001040596 RCV001509353

NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)

SNV
Germline

Chr8:143918259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924312

rs_781931763

3 SubmittersRCV000433919 RCV000726967 RCV001463035

NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)

SNV
Germline

Chr8:143918790

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924455

rs_376779580

3 SubmittersRCV000727117 RCV001089182

NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)

SNV
Germline

Chr8:143919664

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924737

rs_532234200

4 SubmittersRCV000430172 RCV000727107 RCV000807313

NM_201384.3(PLEC):c.7639C>T (p.Arg2547Trp)

SNV
Germline

Chr8:143922182

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925558

rs_782242954

3 SubmittersRCV000424970 RCV001062533 RCV004955483

NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)

SNV
Germline

Chr8:143923988

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926178

rs_962321651

3 SubmittersRCV000430720 RCV000542752 RCV003133258

NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)

SNV
Germline

Chr8:143930033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927429

rs_200611519

7 SubmittersRCV000435316 RCV000725844 RCV000795472 RCV002521792 RCV004533062

NM_201384.3(PLEC):c.2178+10G>A

SNV
Germline

Chr8:143931927

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927631

rs_781817693

3 SubmittersRCV000442955 RCV000648697 RCV000727823

NM_201384.3(PLEC):c.537A>G (p.Arg179=)

SNV
Germline

Chr8:143935913

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928411

rs_782604399

3 SubmittersRCV000727847 RCV001308378

NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)

SNV
Germline

Chr8:143932854

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927900

rs_376555091

4 SubmittersRCV000454865 RCV001051305 RCV001584123

NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr8:143934427

Likely pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

No Assertion Criteria Provided

CA16616909

rs_1060499581

1 SubmittersRCV000477758

NM_201384.3(PLEC):c.9841G>A (p.Val3281Met)

SNV
Germline

Chr8:143919980

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924832

rs_202005454

3 SubmittersRCV000551666 RCV001696894

NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)

SNV
Germline

Chr8:143925143

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926538

rs_782244301

2 SubmittersRCV000486500 RCV001392204

NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)

SNV
Germline

Chr8:143927490

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926989

rs_782539707

3 SubmittersRCV000485767 RCV000798873

NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)

SNV
Germline

Chr8:143921780

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925442

rs_200128670

6 SubmittersRCV000556369 RCV000727773 RCV002526039 RCV004737560

NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)

SNV
Germline

Chr8:143925812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926764

rs_782378494

3 SubmittersRCV000493043 RCV000727166 RCV001202176

NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)

SNV
Germline

Chr8:143923465

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925980

rs_201922111

7 SubmittersRCV000648566 RCV000727788 RCV002524102

NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)

SNV
Germline

Chr8:143932408

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927772

rs_199843296

6 SubmittersRCV000712725 RCV001080262 RCV004023344

NM_201384.3(PLEC):c.1753G>A (p.Ala585Thr)

SNV
Germline

Chr8:143932697

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA187621314

rs_368520468

2 SubmittersRCV000497554 RCV000692355

NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr8:143934021

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Multiple Submitters
No Conflicts

CA372583912

rs_1554719990

2 SubmittersRCV000498390 RCV002524074

NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)

SNV
Germline

Chr8:143916574

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923869

rs_201855218

8 SubmittersRCV000500644 RCV000725640 RCV000764746 RCV000796522 RCV004023395

NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)

SNV
Germline

Chr8:143929425

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927240

rs_376665854

7 SubmittersRCV000502378 RCV000725600 RCV001085255 RCV003278854 RCV004535607

NM_201384.3(PLEC):c.265-9T>G

SNV
Germline

Chr8:143937251

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928509

rs_376483549

4 SubmittersRCV000509252 RCV000597936 RCV000793988

NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)

SNV
Germline

Chr8:143916836

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923934

rs_375593618

5 SubmittersRCV000512847 RCV000648517 RCV002524973

NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)

SNV
Germline

Chr8:143918227

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924303

rs_200722246

5 SubmittersRCV000516968 RCV000726188 RCV002060251 RCV004537855

NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)

SNV
Germline

Chr8:143920798

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925105

rs_200176579

5 SubmittersRCV000517970 RCV000558676 RCV000727764

NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)

SNV
Germline

Chr8:143921506

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA4925363

rs_201916690

5 SubmittersRCV000518817 RCV000648520 RCV000730507 RCV002252149

NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)

SNV
Germline

Chr8:143923663

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926060

rs_782278608

5 SubmittersRCV000516442 RCV002060252 RCV003159661 RCV000727425

NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)

SNV
Germline

Chr8:143924949

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926476

rs_199612329

5 SubmittersRCV000517607 RCV000871097 RCV001080078 RCV004737593

NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)

SNV
Germline

Chr8:143926870

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926829

rs_372256096

6 SubmittersRCV000518288 RCV000726855 RCV001081655 RCV004737592

NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)

SNV
Germline

Chr8:143927305

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926928

rs_377125427

5 SubmittersRCV000517992 RCV000876023 RCV001722437 RCV004541613

NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)

SNV
Germline

Chr8:143931975

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927642

rs_189137260

5 SubmittersRCV000516810 RCV000871807 RCV002255424 RCV002527511

NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile)

SNV
Germline

Chr8:143921501

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925360

rs_782359700

4 SubmittersRCV000522422 RCV001045987 RCV004023556 RCV004737598

NM_201384.3(PLEC):c.4364G>A (p.Arg1455His)

SNV
Germline

Chr8:143925565

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926686

rs_542878693

2 SubmittersRCV000798395 RCV001722442

NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)

SNV
Germline

Chr8:143916372

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923806

rs_782187551

3 SubmittersRCV000528968 RCV000598082

NM_201384.3(PLEC):c.13097C>T (p.Thr4366Ile)

SNV
Germline

Chr8:143916724

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923903

rs_200807583

3 SubmittersRCV000734209 RCV001080164 RCV002530076

NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)

SNV
Germline

Chr8:143917040

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923981

rs_200924154

5 SubmittersRCV000596978 RCV001087492 RCV004538038

NM_201384.3(PLEC):c.8932C>T (p.Arg2978Cys)

SNV
Germline

Chr8:143920889

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925135

rs_782297488

2 SubmittersRCV000538074 RCV003133347

NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)

SNV
Germline

Chr8:143923884

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926128

rs_200540800

4 SubmittersRCV000556675 RCV001539647

NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)

SNV
Germline

Chr8:143924422

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926342

rs_782216341

4 SubmittersRCV000546115 RCV001561642 RCV004649201

NM_201384.3(PLEC):c.1506G>C (p.Gln502His)

SNV
Germline

Chr8:143933024

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927939

rs_571497788

4 SubmittersRCV000592909 RCV000726708 RCV001089178

NM_201384.3(PLEC):c.759C>T (p.Thr253=)

SNV
Germline

Chr8:143935077

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928325

rs_377118309

3 SubmittersRCV000592891 RCV001080390 RCV004737821

NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)

SNV
Germline

Chr8:143916180

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923740

rs_782535880

3 SubmittersRCV000727741 RCV001086615

NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)

SNV
Germline

Chr8:143918164

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924277

rs_368152307

6 SubmittersRCV000534635 RCV000591057 RCV003243190

NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)

SNV
Germline

Chr8:143918345

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924344

rs_781836500

6 SubmittersRCV000728532 RCV001088642 RCV002529028 RCV004543278

NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)

SNV
Germline

Chr8:143918224

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924299

rs_377150241

6 SubmittersRCV000556602 RCV000596912 RCV003343915

NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)

SNV
Germline

Chr8:143919691

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4924742

rs_375724891

5 SubmittersRCV000525646 RCV000585576 RCV000610926

NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)

SNV
Germline

Chr8:143919322

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924629

rs_201387815

5 SubmittersRCV000560530 RCV000594196 RCV002527964

NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)

SNV
Germline

Chr8:143922135

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925545

rs_534269714

3 SubmittersRCV000731783 RCV001079717 RCV004538043

NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)

SNV
Germline

Chr8:143923287

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925917

rs_559736151

4 SubmittersRCV000553328 RCV000595655 RCV000727531

NM_201384.3(PLEC):c.9756G>A (p.Thr3252=)

SNV
Germline

Chr8:143920065

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924863

rs_782717194

2 SubmittersRCV000548004 RCV000733875

NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)

SNV
Germline

Chr8:143923491

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925992

rs_374211586

4 SubmittersRCV000535874 RCV000593117 RCV001088364 RCV004543193

NM_201384.3(PLEC):c.6037C>T (p.Arg2013Trp)

SNV
Germline

Chr8:143923892

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926133

rs_34893635

2 SubmittersRCV000536048 RCV004538042

NM_201384.3(PLEC):c.8454C>T (p.Pro2818=)

SNV
Germline

Chr8:143921367

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925304

rs_782419323

2 SubmittersRCV000528040 RCV000731692

NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)

SNV
Germline

Chr8:143924050

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926205

rs_367679924

5 SubmittersRCV000533391 RCV000727803 RCV004024180

NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)

SNV
Germline

Chr8:143924327

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926305

rs_200543521

3 SubmittersRCV000549715 RCV001591253

NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)

SNV
Germline

Chr8:143922560

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925674

rs_200652637

4 SubmittersRCV000533256 RCV000601732 RCV003133344

NM_201384.3(PLEC):c.4758C>G (p.Ala1586=)

SNV
Germline

Chr8:143925171

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926547

rs_782073897

2 SubmittersRCV000734425 RCV001088965

NM_201384.3(PLEC):c.792C>T (p.Arg264=)

SNV
Germline

Chr8:143935044

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928317

rs_782391508

3 SubmittersRCV000727740 RCV001084112 RCV004737822

NM_201384.3(PLEC):c.3687G>T (p.Arg1229=)

SNV
Germline

Chr8:143927479

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926983

rs_782037394

2 SubmittersRCV000526513 RCV000596341

NM_201384.3(PLEC):c.2163C>T (p.Asn721=)

SNV
Germline

Chr8:143931952

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927637

rs_374712759

3 SubmittersRCV000727065 RCV001088419

NM_201384.3(PLEC):c.10431C>T (p.Pro3477=)

SNV
Germline

Chr8:143919390

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924655

rs_200509064

2 SubmittersRCV000594550 RCV001078594

NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln)

SNV
Germline

Chr8:143919778

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924775

rs_556517027

2 SubmittersRCV000576198 RCV003133382

NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)

SNV
Germline

Chr8:143922559

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925672

rs_199504105

7 SubmittersRCV000553900 RCV000727708 RCV004737820

NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)

SNV
Germline

Chr8:143923088

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925834

rs_200618217

6 SubmittersRCV000529959 RCV000727816 RCV000609012 RCV004024181

NM_201384.3(PLEC):c.6840C>T (p.Ala2280=)

SNV
Germline

Chr8:143923089

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925835

rs_202182619

2 SubmittersRCV000727856 RCV001421530

NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)

SNV
Germline

Chr8:143923513

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926003

rs_372652727

8 SubmittersRCV000536622 RCV000593069 RCV002530083 RCV004737819

NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)

SNV
Germline

Chr8:143923688

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926072

rs_782450868

4 SubmittersRCV000526688 RCV000605974 RCV002530081 RCV003133342

NM_201384.3(PLEC):c.3639C>T (p.Arg1213=)

SNV
Germline

Chr8:143927527

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926996

rs_782293819

2 SubmittersRCV000534414 RCV000732260

NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met)

SNV
Germline

Chr8:143927732

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927067

rs_200672373

5 SubmittersRCV000556916 RCV001722504 RCV004024177 RCV004543191

NM_201384.3(PLEC):c.897G>A (p.Thr299=)

SNV
Germline

Chr8:143934858

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928266

rs_377035835

4 SubmittersRCV000593002 RCV001450091 RCV004543194

NM_201384.3(PLEC):c.12282C>T (p.Asn4094=)

SNV
Germline

Chr8:143917539

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924126

rs_536268706

2 SubmittersRCV000578773 RCV002529052

NM_201384.3(PLEC):c.2268C>T (p.Thr756=)

SNV
Germline

Chr8:143931570

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4927598

rs_371267446

4 SubmittersRCV000712726 RCV001084463 RCV005000365

NM_201384.3(PLEC):c.6038G>A (p.Arg2013Gln)

SNV
Germline

Chr8:143923891

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926132

rs_369708974

2 SubmittersRCV000594805 RCV001485099

NM_201384.3(PLEC):c.2541C>T (p.Ser847=)

SNV
Germline

Chr8:143930215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927483

rs_374688294

4 SubmittersRCV000594610 RCV000725461 RCV001459051

NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)

SNV
Germline

Chr8:143922229

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925572

rs_369729231

3 SubmittersRCV000598086 RCV002530953

NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)

SNV
Germline

Chr8:143927974

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927139

rs_371818099

3 SubmittersRCV000594816 RCV000725578 RCV001078582

NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)

SNV
Germline

Chr8:143917377

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924080

rs_143548638

3 SubmittersRCV000596312 RCV001087417 RCV004543308

NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)

SNV
Germline

Chr8:143924118

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926233

rs_199990259

5 SubmittersRCV000725612 RCV001088172

NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)

SNV
Germline

Chr8:143920415

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924979

rs_200680102

5 SubmittersRCV000593219 RCV000764748 RCV001241498

NM_201384.3(PLEC):c.113-6C>T

SNV
Germline

Chr8:143938698

Conflicting classifications of pathogenicity

Condition: not provided
PLEC-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928625

rs_782235036

4 SubmittersRCV000594097 RCV004543309 RCV002530956

NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)

SNV
Germline

Chr8:143919895

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924812

rs_201369301

5 SubmittersRCV000592614 RCV001088888 RCV004527670

NM_201384.3(PLEC):c.804G>A (p.Val268=)

SNV
Germline

Chr8:143935032

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463536663

rs_1554721745

3 SubmittersRCV000592079 RCV000725667 RCV003767350

NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)

SNV
Germline

Chr8:143922868

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925770

rs_370003608

5 SubmittersRCV000594258 RCV000688855 RCV000725806 RCV004737852

NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)

SNV
Germline

Chr8:143920244

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924925

rs_201402970

5 SubmittersRCV000595300 RCV000703595 RCV004024699

NM_201384.3(PLEC):c.8981G>A (p.Arg2994His)

SNV
Germline

Chr8:143920840

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925119

rs_200970115

5 SubmittersRCV000598514 RCV000812370 RCV004955676

NM_201384.3(PLEC):c.6399G>A (p.Ala2133=)

SNV
Germline

Chr8:143923530

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926008

rs_375489890

3 SubmittersRCV000595645 RCV000648586 RCV004737853

NM_201384.3(PLEC):c.6243C>T (p.Gly2081=)

SNV
Germline

Chr8:143923686

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926070

rs_782746363

3 SubmittersRCV000594122 RCV001239242

NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)

SNV
Germline

Chr8:143930220

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927486

rs_189233521

4 SubmittersRCV000597334 RCV001088460 RCV004543310

NM_201384.3(PLEC):c.7665G>A (p.Ala2555=)

SNV
Germline

Chr8:143922156

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925553

rs_567558623

2 SubmittersRCV000595134 RCV001088182

NM_201384.3(PLEC):c.3711G>T (p.Pro1237=)

SNV
Germline

Chr8:143927455

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463535556

rs_572124553

2 SubmittersRCV000595206 RCV000648587

NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)

SNV
Germline

Chr8:143919925

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924820

rs_368318946

6 SubmittersRCV000594923 RCV000805840 RCV002530960

NM_201384.3(PLEC):c.9750G>A (p.Thr3250=)

SNV
Germline

Chr8:143920071

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924865

rs_200774407

2 SubmittersRCV000596636 RCV001478551

NM_201384.3(PLEC):c.2094G>A (p.Ala698=)

SNV
Germline

Chr8:143932021

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927653

rs_373347166

3 SubmittersRCV000596606 RCV000648655

NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)

SNV
Germline

Chr8:143916363

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4923804

rs_782560017

2 SubmittersRCV000592941 RCV001484245

NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)

SNV
Germline

Chr8:143924460

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926357

rs_771101893

3 SubmittersRCV000595552 RCV001419744 RCV004543312

NM_201384.3(PLEC):c.5638C>T (p.Leu1880=)

SNV
Germline

Chr8:143924291

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926285

rs_782790022

2 SubmittersRCV000598453 RCV003767352

NM_201384.3(PLEC):c.4247G>A (p.Arg1416His)

SNV
Germline

Chr8:143925682

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926721

rs_565291398

4 SubmittersRCV000591344 RCV001490049 RCV003352932

NM_201384.3(PLEC):c.3457C>T (p.Leu1153=)

SNV
Germline

Chr8:143927709

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463535923

rs_1289830071

2 SubmittersRCV000595214 RCV001503232

NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)

SNV
Germline

Chr8:143924347

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926316

rs_200949161

6 SubmittersRCV000727203 RCV001079937 RCV004024702 RCV004543313

NM_201384.3(PLEC):c.6843G>A (p.Ala2281=)

SNV
Germline

Chr8:143923086

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925832

rs_782156855

2 SubmittersRCV000592039 RCV001087686

NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)

SNV
Germline

Chr8:143921086

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA187611776

rs_935096656

4 SubmittersRCV000595740 RCV001853999

NM_201384.3(PLEC):c.4494C>T (p.Arg1498=)

SNV
Germline

Chr8:143925435

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463535329

rs_1458728542

2 SubmittersRCV000598030 RCV002061998

NM_201384.3(PLEC):c.12516C>T (p.Ser4172=)

SNV
Germline

Chr8:143917305

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924066

rs_782180398

2 SubmittersRCV000591630 RCV001453790

NM_201384.3(PLEC):c.9288A>G (p.Leu3096=)

SNV
Germline

Chr8:143920533

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925015

rs_782397500

2 SubmittersRCV000597488 RCV003767354

NM_201384.3(PLEC):c.8283C>T (p.Pro2761=)

SNV
Germline

Chr8:143921538

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925372

rs_533602337

2 SubmittersRCV000593442 RCV003767355

NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)

SNV
Germline

Chr8:143916420

Conflicting classifications of pathogenicity

Condition: not provided
not specified
PLEC-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923817

rs_782114678

4 SubmittersRCV000726513 RCV000597257 RCV004530652 RCV001080407

NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)

SNV
Germline

Chr8:143916984

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923969

rs_759030267

4 SubmittersRCV000591982 RCV001089413

NM_201384.3(PLEC):c.7206C>T (p.Asp2402=)

SNV
Germline

Chr8:143922723

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925729

rs_374041678

2 SubmittersRCV000593083 RCV001084712

NM_201384.3(PLEC):c.3253C>T (p.Leu1085=)

SNV
Germline

Chr8:143929110

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927164

rs_781989280

2 SubmittersRCV000593197 RCV002532370

NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)

SNV
Germline

Chr8:143923272

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925914

rs_762600030

4 SubmittersRCV000596791 RCV001447865

NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)

SNV
Germline

Chr8:143921775

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925441

rs_375590561

4 SubmittersRCV000597290 RCV001080389 RCV004530661

NM_201384.3(PLEC):c.1418+10G>C

SNV
Germline

Chr8:143933187

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA658797171

rs_782571969

5 SubmittersRCV001084858 RCV000596940 RCV004543323

NM_201384.3(PLEC):c.9267C>T (p.Pro3089=)

SNV
Germline

Chr8:143920554

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925018

rs_371751108

2 SubmittersRCV000597304 RCV001089161

NM_201384.3(PLEC):c.13044C>T (p.Arg4348=)

SNV
Germline

Chr8:143916777

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463525768

rs_1413390454

2 SubmittersRCV000591714 RCV002532390

NM_201384.3(PLEC):c.627G>A (p.Lys209=)

SNV
Germline

Chr8:143935289

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463536822

rs_1554722232

2 SubmittersRCV000598151 RCV001444100

NM_201384.3(PLEC):c.2004G>A (p.Lys668=)

SNV
Germline

Chr8:143932208

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463536212

rs_1407649319

2 SubmittersRCV000597461 RCV001440781

NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr8:143925636

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926712

rs_782198489

3 SubmittersRCV000591531 RCV002062014 RCV004530669

NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)

SNV
Germline

Chr8:143925603

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4926703

rs_369943756

4 SubmittersRCV000594416 RCV001078634 RCV001288291

NM_201384.3(PLEC):c.11037G>A (p.Ala3679=)

SNV
Germline

Chr8:143918784

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924451

rs_555044240

2 SubmittersRCV000597611 RCV001473649

NM_201384.3(PLEC):c.5923C>T (p.Leu1975=)

SNV
Germline

Chr8:143924006

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463534172

rs_782656731

2 SubmittersRCV000592878 RCV002531019

NM_201384.3(PLEC):c.2613-4C>T

SNV
Germline

Chr8:143930066

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927436

rs_370001506

2 SubmittersRCV000596962 RCV001398794

NM_201384.3(PLEC):c.8673C>G (p.Gly2891=)

SNV
Germline

Chr8:143921148

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463531164

rs_782370134

2 SubmittersRCV000595678 RCV001435427

NM_201384.3(PLEC):c.7405C>T (p.Leu2469=)

SNV
Germline

Chr8:143922524

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925663

rs_782350068

2 SubmittersRCV000593562 RCV001479142

NM_201384.3(PLEC):c.1305G>A (p.Ala435=)

SNV
Germline

Chr8:143933310

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928020

rs_369877618

5 SubmittersRCV000594156 RCV001083796 RCV004530683

NM_201384.3(PLEC):c.1122C>T (p.His374=)

SNV
Germline

Chr8:143934365

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928165

rs_372270485

3 SubmittersRCV000594950 RCV000726969 RCV001392596

NM_201384.3(PLEC):c.5942G>A (p.Arg1981Gln)

SNV
Germline

Chr8:143923987

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926177

rs_782635621

4 SubmittersRCV000593349 RCV001860181 RCV004024759

NM_201384.3(PLEC):c.6267G>A (p.Ala2089=)

SNV
Germline

Chr8:143923662

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926059

rs_782033629

2 SubmittersRCV000593397 RCV001455984

NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)

SNV
Germline

Chr8:143924297

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926290

rs_782312793

6 SubmittersRCV000597533 RCV000795645

NM_201384.3(PLEC):c.741C>T (p.Asp247=)

SNV
Germline

Chr8:143935095

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928327

rs_781847274

2 SubmittersRCV000593784 RCV001412608

NM_201384.3(PLEC):c.5610G>A (p.Ala1870=)

SNV
Germline

Chr8:143924319

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926302

rs_782258533

2 SubmittersRCV000592606 RCV001067653

NM_201384.3(PLEC):c.1335G>A (p.Ala445=)

SNV
Germline

Chr8:143933280

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928012

rs_530403338

2 SubmittersRCV000597756 RCV002062056

NM_201384.3(PLEC):c.9204C>T (p.Ile3068=)

SNV
Germline

Chr8:143920617

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA187611153

rs_1022654495

2 SubmittersRCV000598070 RCV001452519

NM_201384.3(PLEC):c.10314C>T (p.Asp3438=)

SNV
Germline

Chr8:143919507

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924688

rs_62642462

2 SubmittersRCV000597044 RCV001484177

NM_201384.3(PLEC):c.4494C>G (p.Arg1498=)

SNV
Germline

Chr8:143925435

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA463535330

rs_1458728542

2 SubmittersRCV000593634 RCV002532510

NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)

SNV
Germline

Chr8:143920293

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924944

rs_368317567

3 SubmittersRCV000597782 RCV000727156 RCV001480434

NM_201384.3(PLEC):c.9531C>T (p.Asp3177=)

SNV
Germline

Chr8:143920290

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924941

rs_782764977

2 SubmittersRCV000592981 RCV003767386

NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)

SNV
Germline

Chr8:143927261

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926916

rs_202217053

3 SubmittersRCV000593490 RCV002062070 RCV004543368

NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)

SNV
Germline

Chr8:143923434

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925967

rs_201462310

3 SubmittersRCV000597707 RCV001430047 RCV004543369

NM_201384.3(PLEC):c.8610C>G (p.Arg2870=)

SNV
Germline

Chr8:143921211

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925250

rs_200653758

2 SubmittersRCV000593749 RCV001854066

NM_201384.3(PLEC):c.13077C>T (p.Phe4359=)

SNV
Germline

Chr8:143916744

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923911

rs_782380080

2 SubmittersRCV000597666 RCV001435368

NM_201384.3(PLEC):c.8019G>T (p.Ala2673=)

SNV
Germline

Chr8:143921802

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925451

rs_374178650

3 SubmittersRCV000594030 RCV002062074

NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)

SNV
Germline

Chr8:143916214

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923747

rs_781985768

4 SubmittersRCV000595493 RCV000817784 RCV004024797

NM_201384.3(PLEC):c.2439C>T (p.Cys813=)

SNV
Germline

Chr8:143930402

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927535

rs_782233609

2 SubmittersRCV000597962 RCV001417523

NM_201384.3(PLEC):c.678G>A (p.Ala226=)

SNV
Germline

Chr8:143935238

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928353

rs_782369854

4 SubmittersRCV000593495 RCV001363013 RCV000727352 RCV004530709

NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)

SNV
Germline

Chr8:143919255

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4924606

rs_200741156

3 SubmittersRCV000591508 RCV001416570 RCV001662644

NM_201384.3(PLEC):c.6033C>T (p.Val2011=)

SNV
Germline

Chr8:143923896

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926135

rs_782488330

2 SubmittersRCV000596539 RCV001089167

NM_201384.3(PLEC):c.5655G>A (p.Ala1885=)

SNV
Germline

Chr8:143924274

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926281

rs_782216683

2 SubmittersRCV000593766 RCV001082656

NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)

SNV
Germline

Chr8:143923617

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926045

rs_782048792

3 SubmittersRCV000592604 RCV001084646

NM_201384.3(PLEC):c.3954C>T (p.Asp1318=)

SNV
Germline

Chr8:143926874

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA463535234

rs_1554706146

2 SubmittersRCV000595334 RCV001087027

NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)

SNV
Germline

Chr8:143916225

Conflicting classifications of pathogenicity

Condition: not provided
PLEC-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923750

rs_781917029

3 SubmittersRCV000592992 RCV004543377 RCV002062086

NM_201384.3(PLEC):c.3963G>A (p.Thr1321=)

SNV
Germline

Chr8:143926865

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA463535213

rs_1405843505

2 SubmittersRCV000593191 RCV001427859

NM_201384.3(PLEC):c.2535C>T (p.Ser845=)

SNV
Germline

Chr8:143930221

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927487

rs_199721954

3 SubmittersRCV000595884 RCV001520960 RCV004530712

NM_201384.3(PLEC):c.5616C>T (p.Asp1872=)

SNV
Germline

Chr8:143924313

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926299

rs_371589575

2 SubmittersRCV000591942 RCV001493445

NM_201384.3(PLEC):c.1546G>A (p.Glu516Lys)

SNV
Germline

Chr8:143932984

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927928

rs_530596364

2 SubmittersRCV000591157 RCV002062088

NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)

SNV
Germline

Chr8:143919030

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924533

rs_537994918

5 SubmittersRCV000595080 RCV000727410 RCV002062089 RCV004543378

NM_201384.3(PLEC):c.2736C>G (p.Ala912=)

SNV
Germline

Chr8:143929939

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927403

rs_558031489

4 SubmittersRCV000596675 RCV001088039 RCV004737874

NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)

SNV
Germline

Chr8:143927049

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926867

rs_374669316

4 SubmittersRCV000648602 RCV000593132 RCV004543379 RCV000727412

NM_201384.3(PLEC):c.11503G>A (p.Asp3835Asn)

SNV
Germline

Chr8:143918318

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
not specified

Criteria Provided
Conflicting Classifications

CA4924334

rs_368824832

3 SubmittersRCV000595617 RCV000648631 RCV004701694

NM_201384.3(PLEC):c.5013C>T (p.Arg1671=)

SNV
Germline

Chr8:143924916

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926463

rs_537901575

2 SubmittersRCV000591765 RCV000807039

NM_201384.3(PLEC):c.1668C>T (p.Gly556=)

SNV
Germline

Chr8:143932862

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927901

rs_369796183

3 SubmittersRCV000648598 RCV000597150

NM_201384.3(PLEC):c.4584G>A (p.Ala1528=)

SNV
Germline

Chr8:143925345

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926609

rs_782501584

2 SubmittersRCV000596355 RCV001460365

NM_201384.3(PLEC):c.4044+9C>T

SNV
Germline

Chr8:143926775

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA586158307

rs_1554705813

2 SubmittersRCV000593131 RCV001078691

NM_201384.3(PLEC):c.615C>T (p.Ile205=)

SNV
Germline

Chr8:143935301

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928368

rs_199868457

2 SubmittersRCV000594644 RCV001422859

NM_201384.3(PLEC):c.7566C>T (p.Asp2522=)

SNV
Germline

Chr8:143922255

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925585

rs_372843420

2 SubmittersRCV000596971 RCV001088932

NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)

SNV
Germline

Chr8:143924485

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926362

rs_782213742

5 SubmittersRCV000597317 RCV001867990 RCV004024849

NM_201384.3(PLEC):c.6279G>A (p.Ala2093=)

SNV
Germline

Chr8:143923650

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926056

rs_539190005

2 SubmittersRCV000592731 RCV001082392

NM_201384.3(PLEC):c.8640C>T (p.Cys2880=)

SNV
Germline

Chr8:143921181

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925230

rs_782111379

2 SubmittersRCV000595463 RCV002065182

NM_201384.3(PLEC):c.12675C>G (p.Gly4225=)

SNV
Germline

Chr8:143917146

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924017

rs_371534902

2 SubmittersRCV000593992 RCV002065183

NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)

SNV
Germline

Chr8:143919643

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924729

rs_370079447

6 SubmittersRCV000596668 RCV000727512 RCV000810147 RCV003160062

NM_201384.3(PLEC):c.8577C>T (p.His2859=)

SNV
Germline

Chr8:143921244

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925261

rs_200012425

3 SubmittersRCV000595482 RCV002062105

NM_201384.3(PLEC):c.5589C>T (p.Asn1863=)

SNV
Germline

Chr8:143924340

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926315

rs_782678351

2 SubmittersRCV000597268 RCV000648626

NM_201384.3(PLEC):c.13308C>T (p.Thr4436=)

SNV
Germline

Chr8:143916513

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923846

rs_782527767

2 SubmittersRCV000597776 RCV001085584

NM_201384.3(PLEC):c.655C>T (p.Leu219=)

SNV
Germline

Chr8:143935261

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928361

rs_370454085

2 SubmittersRCV000591603 RCV001446156

NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)

SNV
Germline

Chr8:143917566

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924133

rs_782193445

3 SubmittersRCV000597346 RCV000727532 RCV001089438

NM_201384.3(PLEC):c.10172C>T (p.Ala3391Val)

SNV
Germline

Chr8:143919649

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924731

rs_782323037

2 SubmittersRCV001054285 RCV001697928

NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)

SNV
Germline

Chr8:143920654

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925052

rs_373831849

5 SubmittersRCV000614106 RCV001065625 RCV003129937 RCV004024970

NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)

SNV
Germline

Chr8:143920691

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925061

rs_782038680

4 SubmittersRCV000611214 RCV000729222 RCV002528629 RCV004544778

NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)

SNV
Germline

Chr8:143921619

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925397

rs_782252692

3 SubmittersRCV000610298 RCV000732804 RCV002063908

NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val)

SNV
Germline

Chr8:143925709

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926734

rs_548430154

4 SubmittersRCV000604760 RCV000810548 RCV000999095

NM_201384.3(PLEC):c.2064G>A (p.Pro688=)

SNV
Germline

Chr8:143932148

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927719

rs_374590279

5 SubmittersRCV001078776 RCV000616355 RCV000727819 RCV004530744

NM_000445.5(PLEC):c.50A>G (p.Asn17Ser)

SNV
Germline

Chr8:143975320

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA372492150

rs_1554745695

2 SubmittersRCV000604252 RCV001343265

NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)

SNV
Germline

Chr8:143918530

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924389

rs_368803763

4 SubmittersRCV000608326 RCV001365293 RCV002531166 RCV003133396

NM_201384.3(PLEC):c.10286C>T (p.Ala3429Val)

SNV
Germline

Chr8:143919535

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924701

rs_782556459

2 SubmittersRCV000605096 RCV000806651

NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr)

SNV
Germline

Chr8:143920610

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925036

rs_782624968

2 SubmittersRCV000614142 RCV001855237

NM_201384.3(PLEC):c.8111A>C (p.Lys2704Thr)

SNV
Germline

Chr8:143921710

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925417

rs_376577874

3 SubmittersRCV000605089 RCV001429547 RCV003343942

NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)

SNV
Germline

Chr8:143923460

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925977

rs_558775133

3 SubmittersRCV000601790 RCV000819372 RCV003488728

NM_201384.3(PLEC):c.5389C>T (p.Arg1797Cys)

SNV
Germline

Chr8:143924540

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926376

rs_782175669

3 SubmittersRCV001366050 RCV001712678 RCV002528675

NM_201384.3(PLEC):c.4843C>G (p.Gln1615Glu)

SNV
Germline

Chr8:143925086

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926523

rs_782766351

3 SubmittersRCV000601864 RCV002529607 RCV001203650

NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)

SNV
Germline

Chr8:143927432

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926969

rs_376541112

3 SubmittersRCV000609789 RCV001342076 RCV003133397

NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys)

SNV
Germline

Chr8:143927967

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927136

rs_533410461

5 SubmittersRCV000600621 RCV000874701 RCV001289148 RCV003162735 RCV004533231

NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg)

SNV
Germline

Chr8:143929136

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927166

rs_576369528

4 SubmittersRCV000608122 RCV000946059 RCV004584772 RCV004955716

NM_201384.3(PLEC):c.264+4C>T

SNV
Germline

Chr8:143938147

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928556

rs_369467661

2 SubmittersRCV000609020 RCV001247469

NM_201384.3(PLEC):c.7915G>C (p.Glu2639Gln)

SNV
Germline

Chr8:143921906

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA372521170

rs_782614096

2 SubmittersRCV000606327 RCV002531612

NM_201384.3(PLEC):c.4137C>T (p.His1379=)

SNV
Germline

Chr8:143925792

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926757

rs_782222813

3 SubmittersRCV000602532 RCV000732096 RCV001438502

NM_201384.3(PLEC):c.3045G>A (p.Pro1015=)

SNV
Germline

Chr8:143929450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927249

rs_368477108

3 SubmittersRCV000613117 RCV000999098 RCV001440768

NM_201384.3(PLEC):c.1248C>T (p.Asp416=)

SNV
Germline

Chr8:143934013

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928087

rs_572481168

3 SubmittersRCV000606772 RCV000729419 RCV002064219

NM_201384.3(PLEC):c.1191C>A (p.Ile397=)

SNV
Germline

Chr8:143934070

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928105

rs_781888321

4 SubmittersRCV000602939 RCV000729823 RCV002065428 RCV004530806

NM_201384.3(PLEC):c.12383G>A (p.Arg4128Gln)

SNV
Germline

Chr8:143917438

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924099

rs_533757341

2 SubmittersRCV000615675 RCV001066397

NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)

SNV
Germline

Chr8:143918187

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924283

rs_375097273

6 SubmittersRCV000727731 RCV001088412 RCV004543422

NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn)

SNV
Germline

Chr8:143920705

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925066

rs_374776968

4 SubmittersRCV000693971 RCV001722597 RCV004024912

NM_201384.3(PLEC):c.9071A>C (p.Asn3024Thr)

SNV
Germline

Chr8:143920750

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA372514030

rs_535089650

2 SubmittersRCV000611393 RCV001220720

NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)

SNV
Germline

Chr8:143921289

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925273

rs_782732824

3 SubmittersRCV000602974 RCV000648676 RCV000731027

NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)

SNV
Germline

Chr8:143921646

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA463532414

rs_1209777415

3 SubmittersRCV000611340 RCV001393106 RCV000728762

NM_201384.3(PLEC):c.7468G>C (p.Ala2490Pro)

SNV
Germline

Chr8:143922353

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA372525148

rs_1554689498

2 SubmittersRCV000606128 RCV001860281

NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)

SNV
Germline

Chr8:143922832

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925761

rs_576252504

4 SubmittersRCV000610650 RCV001362332 RCV003129935

NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)

SNV
Germline

Chr8:143923084

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925830

rs_782316711

3 SubmittersRCV000602515 RCV000712755 RCV001860323

NM_201384.3(PLEC):c.12747G>A (p.Ser4249=)

SNV
Germline

Chr8:143917074

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923989

rs_782377686

2 SubmittersRCV000648508 RCV002473094

NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)

SNV
Germline

Chr8:143921079

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
not specified

Criteria Provided
Conflicting Classifications

CA4925200

rs_201211875

4 SubmittersRCV000727700 RCV001078944 RCV001662704

NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)

SNV
Germline

Chr8:143932690

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927862

rs_200259757

3 SubmittersRCV000648457 RCV001288678 RCV002530502

NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)

SNV
Germline

Chr8:143918471

Likely pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

CA372491241

rs_1554675388

1 SubmittersRCV000648519

NM_201384.3(PLEC):c.7464G>A (p.Thr2488=)

SNV
Germline

Chr8:143922357

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925611

rs_560896222

2 SubmittersRCV000731254 RCV001084597

NM_201384.3(PLEC):c.7229C>T (p.Ala2410Val)

SNV
Germline

Chr8:143922700

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925721

rs_543422533

2 SubmittersRCV000648698 RCV001078748

NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)

SNV
Germline

Chr8:143916335

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923784

rs_782618187

3 SubmittersRCV000648455 RCV000838665

NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys)

SNV
Germline

Chr8:143922590

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925684

rs_781936848

3 SubmittersRCV000648651 RCV003129967 RCV004544882

NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)

SNV
Germline

Chr8:143922831

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925760

rs_79489944

4 SubmittersRCV000727714 RCV001503615

NM_201384.3(PLEC):c.6262C>T (p.Arg2088Trp)

SNV
Germline

Chr8:143923667

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926062

rs_558683670

2 SubmittersRCV000648659 RCV003133459

NM_201384.3(PLEC):c.4800C>T (p.His1600=)

SNV
Germline

Chr8:143925129

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926534

rs_149044728

4 SubmittersRCV000648575 RCV000732228

NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser)

SNV
Germline

Chr8:143924402

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_781804005

2 SubmittersRCV000687438 RCV003243250

NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys)

SNV
Germline

Chr8:143916581

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200447944

3 SubmittersRCV000688285 RCV001756168

NM_201384.3(PLEC):c.12222G>A (p.Glu4074=)

SNV
Germline

Chr8:143917599

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782668739

2 SubmittersRCV000687775 RCV001576919

NM_201384.3(PLEC):c.8227G>A (p.Val2743Met)

SNV
Germline

Chr8:143921594

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

rs_781889659

2 SubmittersRCV000999088 RCV000705332

NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)

SNV
Germline

Chr8:143920072

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201349099

6 SubmittersRCV000689349 RCV000712768 RCV002547138

NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr8:143927966

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375617818

5 SubmittersRCV000694498 RCV000727824 RCV002532268

NM_201384.3(PLEC):c.3261-1G>A

SNV
Germline

Chr8:143927993

Likely pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_111730406

1 SubmittersRCV000700614

NM_201384.3(PLEC):c.3501C>T (p.His1167=)

SNV
Germline

Chr8:143927665

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782038506

3 SubmittersRCV000712735 RCV001516909

NM_201384.3(PLEC):c.2829G>A (p.Ala943=)

SNV
Germline

Chr8:143929740

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_369370495

4 SubmittersRCV000712731 RCV001087409 RCV004535768

NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)

SNV
Germline

Chr8:143930425

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372400636

5 SubmittersRCV000712727 RCV001337381 RCV004649296

NM_201384.3(PLEC):c.10208G>A (p.Arg3403Gln)

SNV
Germline

Chr8:143919613

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_369621159

3 SubmittersRCV000727848 RCV001089260

NM_201384.3(PLEC):c.11823C>T (p.Asp3941=)

SNV
Germline

Chr8:143917998

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_201426199

3 SubmittersRCV000727697 RCV002067079 RCV004737979

NM_201384.3(PLEC):c.477G>A (p.Thr159=)

SNV
Germline

Chr8:143935973

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_372111720

2 SubmittersRCV000727704 RCV001399700

NM_201384.3(PLEC):c.3354G>A (p.Val1118=)

SNV
Germline

Chr8:143927899

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_375657597

3 SubmittersRCV000727738 RCV001087140 RCV004737980

NM_201384.3(PLEC):c.12861G>A (p.Glu4287=)

SNV
Germline

Chr8:143916960

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_781934861

2 SubmittersRCV000727757 RCV002060963

NM_201384.3(PLEC):c.12711G>A (p.Ser4237=)

SNV
Germline

Chr8:143917110

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_548342396

2 SubmittersRCV000727766 RCV001402775

NM_201384.3(PLEC):c.8391C>T (p.Ile2797=)

SNV
Germline

Chr8:143921430

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_200289312

2 SubmittersRCV000727767 RCV001084385

NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)

SNV
Germline

Chr8:143926873

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_201416081

4 SubmittersRCV000727770 RCV001085171 RCV004535810

NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)

SNV
Germline

Chr8:143923867

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_367715805

7 SubmittersRCV000727786 RCV001087798 RCV004540030 RCV004997254

NM_201384.3(PLEC):c.9593G>A (p.Arg3198Gln)

SNV
Germline

Chr8:143920228

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_559417477

3 SubmittersRCV000727815 RCV001868927 RCV002535049

NM_201384.3(PLEC):c.2391C>T (p.Arg797=)

SNV
Germline

Chr8:143930450

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782701313

2 SubmittersRCV000727838 RCV001437160

NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)

SNV
Germline

Chr8:143927884

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_371882486

3 SubmittersRCV000727855 RCV001089261

NM_201384.3(PLEC):c.8523C>T (p.Arg2841=)

SNV
Germline

Chr8:143921298

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_1366130220

2 SubmittersRCV000727864 RCV002060964

NM_201384.3(PLEC):c.2425C>T (p.Leu809=)

SNV
Germline

Chr8:143930416

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_771803576

2 SubmittersRCV000727965 RCV002067081

NM_201384.3(PLEC):c.1002C>T (p.Ala334=)

SNV
Germline

Chr8:143934674

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_370574829

4 SubmittersRCV000727967 RCV001078546 RCV004535811

NM_201384.3(PLEC):c.13005C>T (p.Ala4335=)

SNV
Germline

Chr8:143916816

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_757589473

2 SubmittersRCV000728221 RCV001084185

NM_201384.3(PLEC):c.3786C>T (p.Gly1262=)

SNV
Germline

Chr8:143927306

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_547206059

2 SubmittersRCV000728535 RCV001862150

NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)

SNV
Germline

Chr8:143918806

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782767733

5 SubmittersRCV000728683 RCV000820453

NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)

SNV
Germline

Chr8:143918100

Conflicting classifications of pathogenicity

Condition: not provided
PLEC-related disorder
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_371520192

3 SubmittersRCV000728686 RCV004535814 RCV001082484

NM_201384.3(PLEC):c.6987G>A (p.Ala2329=)

SNV
Germline

Chr8:143922942

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_372832025

2 SubmittersRCV000729152 RCV001462163

NM_201384.3(PLEC):c.7833C>T (p.His2611=)

SNV
Germline

Chr8:143921988

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782175030

2 SubmittersRCV000729154 RCV001087473

NM_201384.3(PLEC):c.13212C>T (p.Gly4404=)

SNV
Germline

Chr8:143916609

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_376387058

2 SubmittersRCV000729300 RCV001458308

NM_201384.3(PLEC):c.9219C>T (p.Ser3073=)

SNV
Germline

Chr8:143920602

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_373397279

2 SubmittersRCV000729639 RCV001485713

NM_201384.3(PLEC):c.8451C>T (p.Asp2817=)

SNV
Germline

Chr8:143921370

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_201869295

2 SubmittersRCV000729784 RCV001479074

NM_201384.3(PLEC):c.9192C>T (p.Thr3064=)

SNV
Germline

Chr8:143920629

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_781876705

2 SubmittersRCV000730012 RCV001078489

NM_201384.3(PLEC):c.13281C>T (p.Asp4427=)

SNV
Germline

Chr8:143916540

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782135892

2 SubmittersRCV000730255 RCV002067105

NM_201384.3(PLEC):c.4969C>T (p.Leu1657=)

SNV
Germline

Chr8:143924960

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782048416

2 SubmittersRCV000730528 RCV002536448

NM_201384.3(PLEC):c.5967C>T (p.Arg1989=)

SNV
Germline

Chr8:143923962

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782366951

2 SubmittersRCV000730670 RCV001427362

NM_201384.3(PLEC):c.9363G>A (p.Lys3121=)

SNV
Germline

Chr8:143920458

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782216573

2 SubmittersRCV000730728 RCV003768199

NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)

SNV
Germline

Chr8:143922237

Conflicting classifications of pathogenicity

PLEC-related disorder
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_372858742

4 SubmittersRCV004540052 RCV000730814 RCV001496185

NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)

SNV
Germline

Chr8:143920950

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_368326361

4 SubmittersRCV000730816 RCV001459032 RCV004540054

NM_201384.3(PLEC):c.12669C>T (p.Arg4223=)

SNV
Germline

Chr8:143917152

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_571894941

2 SubmittersRCV000730861 RCV001085044

NM_201384.3(PLEC):c.11805C>T (p.Ile3935=)

SNV
Germline

Chr8:143918016

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_755044609

2 SubmittersRCV000730954 RCV001460516

NM_201384.3(PLEC):c.3375C>T (p.Leu1125=)

SNV
Germline

Chr8:143927878

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782733038

2 SubmittersRCV000731126 RCV001480028

NM_201384.3(PLEC):c.2493G>T (p.Val831=)

SNV
Germline

Chr8:143930263

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782281167

2 SubmittersRCV000731482 RCV002067121

NM_201384.3(PLEC):c.1866G>A (p.Val622=)

SNV
Germline

Chr8:143932511

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782459118

2 SubmittersRCV000731614 RCV001461404

NM_201384.3(PLEC):c.1491G>A (p.Ala497=)

SNV
Germline

Chr8:143933039

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782376231

2 SubmittersRCV000731708 RCV002061004

NM_201384.3(PLEC):c.349C>T (p.Leu117=)

SNV
Germline

Chr8:143937065

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_377334858

2 SubmittersRCV000731802 RCV001441219

NM_201384.3(PLEC):c.1429C>T (p.Leu477=)

SNV
Germline

Chr8:143933101

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_150969631

2 SubmittersRCV000732214 RCV003768219

NM_201384.3(PLEC):c.6954G>A (p.Ala2318=)

SNV
Germline

Chr8:143922975

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_781896656

2 SubmittersRCV000732257 RCV001458304

NM_201384.3(PLEC):c.5985G>A (p.Ala1995=)

SNV
Germline

Chr8:143923944

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_782237405

2 SubmittersRCV000732968 RCV001868981

NM_201384.3(PLEC):c.11574G>A (p.Thr3858=)

SNV
Germline

Chr8:143918247

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_370526712

3 SubmittersRCV000733313 RCV001085112

NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)

SNV
Germline

Chr8:143919810

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_367762942

4 SubmittersRCV001457745 RCV000733539

NM_201384.3(PLEC):c.4917C>T (p.Asn1639=)

SNV
Germline

Chr8:143925012

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_370503466

2 SubmittersRCV000733577 RCV001505835

NM_201384.3(PLEC):c.12942G>A (p.Ala4314=)

SNV
Germline

Chr8:143916879

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_375246252

2 SubmittersRCV000733737 RCV001463033

NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)

SNV
Germline

Chr8:143919092

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782299720

5 SubmittersRCV000734033 RCV001208363 RCV002252224 RCV004649308

NM_201384.3(PLEC):c.12495C>T (p.His4165=)

SNV
Germline

Chr8:143917326

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_782564756

2 SubmittersRCV000734223 RCV002067163

NM_201384.3(PLEC):c.12207C>T (p.Arg4069=)

SNV
Germline

Chr8:143917614

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_377288637

2 SubmittersRCV000734250 RCV001392247

NM_201384.3(PLEC):c.2550C>G (p.Ala850=)

SNV
Germline

Chr8:143930206

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376777606

3 SubmittersRCV001088909 RCV000734525

NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln)

SNV
Germline

Chr8:143922154

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782640329

4 SubmittersRCV000734705 RCV002535388 RCV004958072

NM_201384.3(PLEC):c.12690C>T (p.Thr4230=)

SNV
Germline

Chr8:143917131

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_370135715

3 SubmittersRCV000734763 RCV001483286

NM_201384.3(PLEC):c.11415C>A (p.Ala3805=)

SNV
Germline

Chr8:143918406

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_974011425

2 SubmittersRCV000734802 RCV001437269

NM_201384.3(PLEC):c.13437C>T (p.Ser4479=)

SNV
Germline

Chr8:143916384

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_782221357

2 SubmittersRCV000734804 RCV001414397

NM_201384.3(PLEC):c.11343G>T (p.Ser3781=)

SNV
Germline

Chr8:143918478

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

rs_376719872

2 SubmittersRCV000734989 RCV001346343

NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter)

SNV
Germline

Chr8:143920830

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1279778532

2 SubmittersRCV000760843 RCV003768288

NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)

SNV
Germline

Chr8:143923019

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_782107643

3 SubmittersRCV000760935 RCV001855934

NM_201384.3(PLEC):c.7952G>A (p.Arg2651Gln)

SNV
Germline

Chr8:143921869

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_375411469

4 SubmittersRCV000818453 RCV003132099 RCV002535473 RCV004738024

NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln)

SNV
Germline

Chr8:143925253

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371895113

3 SubmittersRCV000816981 RCV000840344

NM_201384.3(PLEC):c.4313G>A (p.Arg1438Gln)

SNV
Germline

Chr8:143925616

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782642707

4 SubmittersRCV000802916 RCV001508256 RCV004028125

NM_201384.3(PLEC):c.12703A>G (p.Met4235Val)

SNV
Germline

Chr8:143917118

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782479828

3 SubmittersRCV000841463 RCV001224902

NM_201384.3(PLEC):c.12529G>A (p.Glu4177Lys)

SNV
Germline

Chr8:143917292

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_1554671692

2 SubmittersRCV000841282 RCV001858438

NM_201384.3(PLEC):c.9694G>A (p.Glu3232Lys)

SNV
Germline

Chr8:143920127

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_1030581337

2 SubmittersRCV000827298 RCV001339389

NM_201384.3(PLEC):c.7031G>A (p.Arg2344Gln)

SNV
Germline

Chr8:143922898

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782566489

2 SubmittersRCV000827507 RCV001213259

NM_201384.3(PLEC):c.5420G>A (p.Arg1807His)

SNV
Germline

Chr8:143924509

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782737003

2 SubmittersRCV000826987 RCV001340973

NM_201384.3(PLEC):c.4795G>C (p.Glu1599Gln)

SNV
Germline

Chr8:143925134

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782412083

2 SubmittersRCV000842088 RCV003768602

NM_201384.3(PLEC):c.1872C>T (p.Ala624=)

SNV
Germline

Chr8:143932505

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782547448

3 SubmittersRCV000841007 RCV002538302

NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)

SNV
Germline

Chr8:143934015

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782674838

3 SubmittersRCV000842612 RCV001296994

NM_201384.3(PLEC):c.2739+4C>T

SNV
Germline

Chr8:143929932

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782418880

2 SubmittersRCV000841505 RCV002538313

NM_201384.3(PLEC):c.13149C>T (p.Ala4383=)

SNV
Germline

Chr8:143916672

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_199719299

2 SubmittersRCV000876800 RCV001517307

NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=)

SNV
Germline

Chr8:143917356

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773080070

3 SubmittersRCV000874296 RCV004530821 RCV003132113

NM_201384.3(PLEC):c.11394G>A (p.Arg3798=)

SNV
Germline

Chr8:143918427

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

rs_368222729

3 SubmittersRCV000877475 RCV002275167 RCV001199089

NM_201384.3(PLEC):c.10608G>A (p.Thr3536=)

SNV
Germline

Chr8:143919213

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782337540

2 SubmittersRCV000878858 RCV001488855

NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)

SNV
Germline

Chr8:143920245

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201460864

3 SubmittersRCV000874240 RCV001288680

NM_201384.3(PLEC):c.8763G>A (p.Thr2921=)

SNV
Germline

Chr8:143921058

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377001239

3 SubmittersRCV000874228 RCV001593098

NM_201384.3(PLEC):c.7613A>G (p.Gln2538Arg)

SNV
Germline

Chr8:143922208

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372005251

4 SubmittersRCV000874229 RCV001551252 RCV004027840

NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)

SNV
Germline

Chr8:143922958

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_561571844

3 SubmittersRCV000874700 RCV001288352

NM_201384.3(PLEC):c.4617G>A (p.Glu1539=)

SNV
Germline

Chr8:143925312

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1485661864

2 SubmittersRCV002540031 RCV003132117

NM_201384.3(PLEC):c.342+7C>T

SNV
Germline

Chr8:143937158

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related epidermolysis bullosa
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_367808541

3 SubmittersRCV000877444 RCV001270893 RCV004530870

NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)

SNV
Germline

Chr8:143924814

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782757364

5 SubmittersRCV000951398 RCV001288294

NM_201384.3(PLEC):c.4923G>A (p.Ala1641=)

SNV
Germline

Chr8:143925006

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

rs_782278045

2 SubmittersRCV000950595 RCV001401030

NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu)

SNV
Germline

Chr8:143916247

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368507062

4 SubmittersRCV000960715 RCV003243384 RCV003457895

NM_201384.3(PLEC):c.2262C>T (p.Ser754=)

SNV
Germline

Chr8:143931576

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782261639

2 SubmittersRCV000959994 RCV003132127

NM_201384.3(PLEC):c.1830C>T (p.Ala610=)

SNV
Germline

Chr8:143932547

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1008611582

2 SubmittersRCV001499266 RCV005001124

NM_201384.3(PLEC):c.6204G>A (p.Thr2068=)

SNV
Germline

Chr8:143923725

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

rs_979599396

3 SubmittersRCV000936384 RCV001499302 RCV004533596

NM_201384.3(PLEC):c.7699C>A (p.Arg2567=)

SNV
Germline

Chr8:143922122

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782083663

2 SubmittersRCV002548414 RCV003130095

NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)

SNV
Germline

Chr8:143916815

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201163149

4 SubmittersRCV000992639 RCV001294986 RCV002549803

NM_201384.3(PLEC):c.3774C>T (p.Ile1258=)

SNV
Germline

Chr8:143927318

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_200582060

2 SubmittersRCV000999096 RCV003769372

NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn)

SNV
Germline

Chr8:143918219

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782028739

3 SubmittersRCV003132190 RCV001059180

NM_201384.3(PLEC):c.4652G>A (p.Arg1551His)

SNV
Germline

Chr8:143925277

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374991369

4 SubmittersRCV001067836 RCV001547383 RCV003160557

NM_201384.3(PLEC):c.1304C>T (p.Ala435Val)

SNV
Germline

Chr8:143933311

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782509734

3 SubmittersRCV001551680 RCV001040786

NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)

SNV
Germline

Chr8:143917100

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782789434

5 SubmittersRCV001222147 RCV001664764 RCV003163713

NM_201384.3(PLEC):c.8524G>A (p.Val2842Ile)

SNV
Germline

Chr8:143921297

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782665391

3 SubmittersRCV001217930 RCV004546616 RCV004960563

NM_201384.3(PLEC):c.4727C>T (p.Ala1576Val)

SNV
Germline

Chr8:143925202

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782322130

2 SubmittersRCV001205982 RCV002561205

NM_201384.3(PLEC):c.5161G>A (p.Glu1721Lys)

SNV
Germline

Chr8:143924768

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782556816

2 SubmittersRCV001228697 RCV001565310

NM_201384.3(PLEC):c.10637C>T (p.Ala3546Val)

SNV
Germline

Chr8:143919184

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_533151885

3 SubmittersRCV001242129 RCV003166512 RCV003132334

NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp)

SNV
Germline

Chr8:143922155

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_781882121

3 SubmittersRCV001586085 RCV001242382

NM_201384.3(PLEC):c.1123G>A (p.Val375Met)

SNV
Germline

Chr8:143934364

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_199866423

5 SubmittersRCV003319225 RCV001549743 RCV001245913

NM_201384.3(PLEC):c.901G>A (p.Ala301Thr)

SNV
Germline

Chr8:143934854

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_573432728

3 SubmittersRCV001241539 RCV003130218 RCV004034684

NM_201384.3(PLEC):c.2643G>A (p.Thr881=)

SNV
Germline

Chr8:143930032

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_369973592

3 SubmittersRCV001289144 RCV001471002

NM_201384.3(PLEC):c.2435T>C (p.Val812Ala)

SNV
Germline

Chr8:143930406

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_557539356

3 SubmittersRCV001289140 RCV001308975 RCV004035567

NM_201384.3(PLEC):c.9317G>A (p.Arg3106Lys)

SNV
Germline

Chr8:143920504

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374190410

2 SubmittersRCV001300795 RCV004960711

NM_201384.3(PLEC):c.8140G>A (p.Ala2714Thr)

SNV
Germline

Chr8:143921681

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782744244

2 SubmittersRCV001303427 RCV004036276

NM_201384.3(PLEC):c.7634G>A (p.Arg2545Gln)

SNV
Germline

Chr8:143922187

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782020198

2 SubmittersRCV001298227 RCV003132382

NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys)

SNV
Germline

Chr8:143923502

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782305250

5 SubmittersRCV001299869 RCV001557881 RCV004545191 RCV004960707

NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)

SNV
Germline

Chr8:143924374

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782360547

4 SubmittersRCV001305130 RCV003135943

NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)

SNV
Germline

Chr8:143916292

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782174299

4 SubmittersRCV001341465 RCV001786477 RCV002546932

NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe)

SNV
Germline

Chr8:143927072

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_782169513

2 SubmittersRCV001352836 RCV002548489

NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys)

SNV
Germline

Chr8:143920526

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782532815

3 SubmittersRCV001367102 RCV001581101

NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter)

SNV
Germline

Chr8:143916715

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_1554669959

1 SubmittersRCV001386622

NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)

SNV
Germline

Chr8:143917403

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

rs_1554671979

1 SubmittersRCV001381862

NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter)

SNV
Germline

Chr8:143922593

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_376827900

1 SubmittersRCV001384546

NM_201384.3(PLEC):c.9840C>T (p.Thr3280=)

SNV
Germline

Chr8:143919981

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375274969

2 SubmittersRCV001455143 RCV003130521

NM_201378.4(PLEC):c.70+2T>C

SNV
Germline

Chr8:143973401

Likely pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_2132991287

1 SubmittersRCV001455587

NM_201384.3(PLEC):c.5241G>A (p.Thr1747=)

SNV
Germline

Chr8:143924688

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1216335768

2 SubmittersRCV001493080 RCV003136090

NM_201384.3(PLEC):c.5191C>T (p.Leu1731=)

SNV
Germline

Chr8:143924738

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1554698837

2 SubmittersRCV001479193 RCV003130527

NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)

SNV
Germline

Chr8:143922118

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

rs_552039931

4 SubmittersRCV001557696 RCV002570717 RCV002568372

NM_201384.3(PLEC):c.5920C>G (p.Gln1974Glu)

SNV
Germline

Chr8:143924009

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782585525

3 SubmittersRCV001558382 RCV002032627 RCV002569002

NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser)

SNV
Germline

Chr8:143927308

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782158050

4 SubmittersRCV001582280 RCV003106241 RCV004536220 RCV004952997

NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)

SNV
Germline

Chr8:143973407

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2132991341

2 SubmittersRCV001650502 RCV002073029

NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)

SNV
Germline

Chr8:143921672

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554686620

3 SubmittersRCV001650503 RCV001780422 RCV001882744

NM_201384.3(PLEC):c.2455G>T (p.Glu819Ter)

SNV
Germline

Chr8:143930386

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia

No Assertion Criteria Provided

rs_1554713693

1 SubmittersRCV001714247

NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter)

SNV
Germline

Chr8:143922959

Pathogenic

Myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554691029

2 SubmittersRCV001775215 RCV003772109

NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter)

SNV
Germline

Chr8:143925461

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554702689

2 SubmittersRCV001782657 RCV002034606

NM_201384.3(PLEC):c.3442G>A (p.Ala1148Thr)

SNV
Germline

Chr8:143927724

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370869846

2 SubmittersRCV001912635 RCV003134209

NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter)

SNV
Germline

Chr8:143924759

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_2131422085

1 SubmittersRCV001949703

NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter)

SNV
Germline

Chr8:143925323

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

rs_2131471759

1 SubmittersRCV001963030

NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter)

SNV
Germline

Chr8:143923265

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

rs_1823561323

1 SubmittersRCV001942170

NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter)

SNV
Germline

Chr8:143922851

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

rs_2131284343

1 SubmittersRCV001962954

NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter)

SNV
Germline

Chr8:143930253

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

rs_2131772658

1 SubmittersRCV001933588

NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)

SNV
Germline

Chr8:143919248

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

rs_781837529

1 SubmittersRCV001939350

NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter)

SNV
Germline

Chr8:143920799

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

rs_1410984638

1 SubmittersRCV001953416

NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter)

SNV
Germline

Chr8:143927048

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

rs_2131581257

1 SubmittersRCV001953448

NM_201384.3(PLEC):c.6317A>G (p.Gln2106Arg)

SNV
Germline

Chr8:143923612

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781986464

2 SubmittersRCV002031721 RCV004729056

NM_201384.3(PLEC):c.11509C>G (p.Leu3837Val)

SNV
Germline

Chr8:143918312

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

rs_782299926

3 SubmittersRCV003491042 RCV004046323 RCV002146778

NM_201384.3(PLEC):c.6348G>A (p.Arg2116=)

SNV
Germline

Chr8:143923581

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782758062

2 SubmittersRCV002153354 RCV003134393

NM_201384.3(PLEC):c.789C>T (p.Pro263=)

SNV
Germline

Chr8:143935047

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782100354

2 SubmittersRCV002083521 RCV003134385

NM_201384.3(PLEC):c.8736G>A (p.Ala2912=)

SNV
Germline

Chr8:143921085

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_561518097

2 SubmittersRCV002165699 RCV003134375

NM_201384.3(PLEC):c.2559C>T (p.Ser853=)

SNV
Germline

Chr8:143930197

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_976620376

2 SubmittersRCV002175422 RCV003134377

NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)

SNV
Germline

Chr8:143922617

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV003037307

NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)

SNV
Germline

Chr8:143924240

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV003037308

NM_201384.3(PLEC):c.2457+1G>A

SNV
Germline

Chr8:143930383

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003076883

NM_201384.3(PLEC):c.8949C>G (p.Ala2983=)

SNV
Germline

Chr8:143920872

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003074274 RCV003134614

NM_201384.3(PLEC):c.826-1G>A

SNV
Germline

Chr8:143934930

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003060796

NM_201384.3(PLEC):c.2370C>T (p.Ala790=)

SNV
Germline

Chr8:143930471

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003088042 RCV003134645

NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr8:143936002

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003090424

NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)

SNV
Germline

Chr8:143935915

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003111796

NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)

SNV
Germline

Chr8:143920235

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV002642828

NM_201384.3(PLEC):c.7976A>G (p.Gln2659Arg)

SNV
Germline

Chr8:143921845

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933358 RCV003134545

NM_201384.3(PLEC):c.8455G>A (p.Val2819Met)

SNV
Germline

Chr8:143921366

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002909362 RCV003134537 RCV004958825

NM_201384.3(PLEC):c.1738-2A>C

SNV
Germline

Chr8:143932714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

1 SubmittersRCV003008528

NM_201384.3(PLEC):c.9538G>A (p.Ala3180Thr)

SNV
Germline

Chr8:143920283

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003135003 RCV003164834 RCV003778760

NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)

SNV
Germline

Chr8:143923712

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003131229 RCV003778709

NM_201384.3(PLEC):c.6012G>C (p.Arg2004=)

SNV
Germline

Chr8:143923917

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003135014 RCV003778762 RCV004538902

NM_201384.3(PLEC):c.1738-9C>T

SNV
Germline

Chr8:143932721

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003482797 RCV003779230

NM_201384.3(PLEC):c.7425+1G>A

SNV
Germline

Chr8:143922503

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003797813

NM_201384.3(PLEC):c.2178+2T>G

SNV
Germline

Chr8:143931935

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003796534

NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)

SNV
Germline

Chr8:143929652

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003792269

NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)

SNV
Germline

Chr8:143917304

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003806284

NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)

SNV
Germline

Chr8:143926855

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

1 SubmittersRCV003804373

NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)

SNV
Germline

Chr8:143925395

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003802892

NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)

SNV
Germline

Chr8:143917620

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003801149

NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)

SNV
Germline

Chr8:143932855

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV003796916

NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)

SNV
Germline

Chr8:143923559

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003794962

NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)

SNV
Germline

Chr8:143930052

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

1 SubmittersRCV003802041

NM_201384.3(PLEC):c.9043A>G (p.Thr3015Ala)

SNV
Germline

Chr8:143920778

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003801632 RCV004661782

NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)

SNV
Germline

Chr8:143919119

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV003810180