Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	SNV Germline	Chr18:23907639	Pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe Laryngo-onycho-cutaneous syndrome	Criteria Provided Multiple Submitters No Conflicts	CA254564	rs_137852757	4 SubmittersRCV000009337 RCV001781210 RCV002051619 RCV005003348
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)	SNV Germline	Chr18:23914721	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8916671	rs_139823161	4 SubmittersRCV000286404 RCV000341519 RCV000349331 RCV002519176
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)	SNV Germline	Chr18:23933902	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Laryngo-onycho-cutaneous syndrome LAMA3-related disorder	Criteria Provided Conflicting Classifications	CA8917012	rs_141472847	4 SubmittersRCV000275497 RCV000393646 RCV000386291 RCV004543140
NM_198129.4(LAMA3):c.5169T>C (p.Tyr1723=)	SNV Germline	Chr18:23881992	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8915917	rs_140561492	2 SubmittersRCV000261788 RCV000356671 RCV000913164
NM_198129.4(LAMA3):c.5223-13G>C	SNV Germline	Chr18:23884760	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8915947	rs_145241852	2 SubmittersRCV000317063 RCV000371576 RCV003556338
NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)	SNV Germline	Chr18:23894967	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Conflicting Classifications	CA8916086	rs_144475991	2 SubmittersRCV000313197 RCV000906036 RCV000393787
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)	SNV Germline	Chr18:23898745	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8916130	rs_139348197	3 SubmittersRCV000259838 RCV000305724 RCV000430413
NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)	SNV Germline	Chr18:23899448	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10641189	rs_564308785	2 SubmittersRCV000271921 RCV000326299 RCV002056653
NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu)	SNV Germline	Chr18:23928227	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA8916882	rs_144549206	3 SubmittersRCV000298195 RCV000978409 RCV000393534 RCV005355645
NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=)	SNV Germline	Chr18:23932247	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8916982	rs_138908985	2 SubmittersRCV000301765 RCV000407499 RCV002521137
NM_198129.4(LAMA3):c.5613+13C>T	SNV Germline	Chr18:23895071	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916108	rs_766241071	2 SubmittersRCV000349370 RCV000403350 RCV003574749
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)	SNV Germline	Chr18:23946174	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8917140	rs_35762515	4 SubmittersRCV000340030 RCV000671746 RCV000909523
NM_198129.4(LAMA3):c.9512-11T>C	SNV Germline	Chr18:23950018	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8917215	rs_776372744	3 SubmittersRCV000370063 RCV000670657 RCV003718195
NM_000227.6(LAMA3):c.30C>T (p.Cys10=)	SNV Germline	Chr18:23873074	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8915809	rs_145044428	4 SubmittersRCV000312700 RCV000392165 RCV004984816 RCV000958234
NM_198129.4(LAMA3):c.5493C>T (p.Asn1831=)	SNV Germline	Chr18:23894938	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8916071	rs_199982757	3 SubmittersRCV000288377 RCV000352614 RCV000901679 RCV004984817
NM_198129.4(LAMA3):c.6690C>T (p.Ala2230=)	SNV Germline	Chr18:23905596	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA10650624	rs_886053673	2 SubmittersRCV000310287 RCV000405690 RCV002056654
NM_198129.4(LAMA3):c.7482-5A>C	SNV Germline	Chr18:23914693	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916666	rs_780657629	2 SubmittersRCV000317140 RCV000371653 RCV000928693
NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=)	SNV Germline	Chr18:23928138	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916871	rs_762861196	2 SubmittersRCV000292003 RCV000346792 RCV000942115
NM_198129.4(LAMA3):c.8283G>A (p.Ser2761=)	SNV Germline	Chr18:23928228	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided LAMA3-related disorder	Criteria Provided Conflicting Classifications	CA8916883	rs_146634036	3 SubmittersRCV000267846 RCV000353042 RCV000912077 RCV004544588
NM_198129.4(LAMA3):c.9738C>T (p.Val3246=)	SNV Germline	Chr18:23952991	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA10650628	rs_886053679	2 SubmittersRCV000260534 RCV000353122 RCV002521140
NM_198129.4(LAMA3):c.5304-4G>A	SNV Germline	Chr18:23890007	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8915994	rs_370409067	2 SubmittersRCV000267708 RCV000322614 RCV001476060
NM_198129.4(LAMA3):c.5410+10A>G	SNV Germline	Chr18:23890127	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8916021	rs_746263741	2 SubmittersRCV000347195 RCV000382866 RCV001469748
NM_198129.4(LAMA3):c.6202-12T>A	SNV Germline	Chr18:23902997	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916307	rs_764177904	2 SubmittersRCV000292188 RCV000337853 RCV003556339
NM_198129.4(LAMA3):c.6616-13G>T	SNV Germline	Chr18:23905509	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA10651429	rs_886053672	3 SubmittersRCV000359180 RCV000671174 RCV003765891
NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)	SNV Germline	Chr18:23909258	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8916556	rs_563440658	2 SubmittersRCV000269259 RCV000364926 RCV002521135
NM_198129.4(LAMA3):c.7545C>T (p.Pro2515=)	SNV Germline	Chr18:23914761	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916675	rs_145460785	2 SubmittersRCV000347110 RCV000407923 RCV000915210
NM_198129.4(LAMA3):c.7727A>G (p.Asn2576Ser)	SNV Germline	Chr18:23915371	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided LAMA3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8916731	rs_781529313	4 SubmittersRCV000274407 RCV000368841 RCV000910522 RCV004537821 RCV005355644
NM_198129.4(LAMA3):c.8241C>T (p.Val2747=)	SNV Germline	Chr18:23928186	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8916876	rs_371174542	2 SubmittersRCV000350726 RCV000393543 RCV000929891
NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys)	SNV Germline	Chr18:23932239	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916979	rs_199991488	2 SubmittersRCV000338183 RCV000407468 RCV002523036
NM_198129.4(LAMA3):c.9027-14G>A	SNV Germline	Chr18:23943774	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8917085	rs_372927257	3 SubmittersRCV000279123 RCV000336555 RCV002504104 RCV002521139
NM_198129.4(LAMA3):c.7158+1G>A	SNV Germline	Chr18:23909296	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041938	rs_1057516279	3 SubmittersRCV000411524 RCV002502419 RCV003660799
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	SNV Germline	Chr18:23939301	Pathogenic	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz type LAMA3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8917040	rs_772038362	5 SubmittersRCV000520973 RCV000984192 RCV000763025 RCV000984191 RCV004537867
NM_198129.4(LAMA3):c.5112+1G>A	SNV Germline	Chr18:23876408	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Epidermolysis bullosa, junctional 2A, intermediate Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Multiple Submitters No Conflicts	CA402045096	rs_1057517023	4 SubmittersRCV000668353 RCV001222962 RCV004568515 RCV005027797
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter)	SNV Germline	Chr18:23933859	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter	CA402067317	rs_1401574168	2 SubmittersRCV000673677 RCV005019159
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)	SNV Germline	Chr18:23933924	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8917013	rs_61752346	4 SubmittersRCV000671930 RCV001122530 RCV002060825 RCV002222599
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)	SNV Germline	Chr18:23861742	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe Laryngo-onycho-cutaneous syndrome	Criteria Provided Single Submitter	CA8915632	rs_534665666	2 SubmittersRCV000664589 RCV004796270
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)	SNV Germline	Chr18:23867900	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe Condition: not provided	Criteria Provided Conflicting Classifications	CA8915715	rs_552326056	3 SubmittersRCV000666415 RCV002477484 RCV002532051
NM_198129.4(LAMA3):c.5924G>A (p.Arg1975His)	SNV Germline	Chr18:23899375	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome	Criteria Provided Conflicting Classifications	CA8916219	rs_149809232	2 SubmittersRCV000970338 RCV001125779 RCV001125778
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)	SNV Germline	Chr18:23921039	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome LAMA3-related disorder	Criteria Provided Conflicting Classifications	CA8916808	rs_35737354	4 SubmittersRCV000880302 RCV001125103 RCV001125104 RCV004530896
NM_198129.4(LAMA3):c.7740A>G (p.Thr2580=)	SNV Germline	Chr18:23915384	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome LAMA3-related disorder	Criteria Provided Conflicting Classifications	CA8916735	rs_145848988	4 SubmittersRCV000910225 RCV001128073 RCV001128074 RCV004533486
NM_198129.4(LAMA3):c.9165G>A (p.Leu3055=)	SNV Germline	Chr18:23943926	Conflicting classifications of pathogenicity	Condition: not provided Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz LAMA3-related disorder	Criteria Provided Conflicting Classifications	CA8917105	rs_370470226	3 SubmittersRCV000901168 RCV001125322 RCV001125323 RCV004531024
NM_198129.4(LAMA3):c.9209C>T (p.Thr3070Met)	SNV Germline	Chr18:23943970	Conflicting classifications of pathogenicity	Condition: not provided Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8917115	rs_117056996	3 SubmittersRCV000905811 RCV001125324 RCV001125325 RCV002537592
NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)	SNV Germline	Chr18:23915367	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome	Criteria Provided Conflicting Classifications	CA8916728	rs_377097479	2 SubmittersRCV000912678 RCV001125967 RCV001125968
NM_198129.4(LAMA3):c.1154C>A (p.Ala385Asp)	SNV Germline	Chr18:23763495	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Conflicting Classifications	CA8914487	rs_772044341	4 SubmittersRCV000913223 RCV004029357 RCV005392542
NM_198129.4(LAMA3):c.5340C>T (p.Phe1780=)	SNV Germline	Chr18:23890047	Conflicting classifications of pathogenicity	Condition: not provided Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Conflicting Classifications	CA8916005	rs_138524783	2 SubmittersRCV000979122 RCV001127795 RCV001127794
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)	SNV Germline	Chr18:23899393	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Junctional epidermolysis bullosa gravis of Herlitz Epidermolysis bullosa, junctional 2B, severe Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8916226	rs_139393175	4 SubmittersRCV001125780 RCV001125781 RCV002497537 RCV002556725 RCV004986824
NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg)	SNV Germline	Chr18:23914762	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8916676	rs_113624323	3 SubmittersRCV001124991 RCV001124992 RCV002556709 RCV002556708
NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)	SNV Germline	Chr18:23915383	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Junctional epidermolysis bullosa gravis of Herlitz Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Conflicting Classifications	CA8916734	rs_61751705	4 SubmittersRCV001125969 RCV001125970 RCV002556732 RCV005394754
NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)	SNV Germline	Chr18:23916617	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8916767	rs_773730834	2 SubmittersRCV001122315 RCV001122314 RCV001413588
NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)	SNV Germline	Chr18:23932196	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Laryngo-onycho-cutaneous syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA503341357	rs_1179461242	2 SubmittersRCV001125217 RCV001125218 RCV002070042
NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His)	SNV Germline	Chr18:23949813	Conflicting classifications of pathogenicity	Laryngo-onycho-cutaneous syndrome Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided	Criteria Provided Conflicting Classifications	CA8917182	rs_139393524	2 SubmittersRCV001126291 RCV001126290 RCV002558244
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)	SNV Germline	Chr18:23932182	Pathogenic/Likely pathogenic	Condition: not provided Epidermolysis bullosa, junctional 2A, intermediate Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Multiple Submitters No Conflicts	CA402065961	rs_2082180462	3 SubmittersRCV001224889 RCV004546620 RCV005021538
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)	SNV Germline	Chr18:23912756	Pathogenic	Junctional epidermolysis bullosa Condition: not provided Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Multiple Submitters No Conflicts	CA8916581	rs_777713989	3 SubmittersRCV001779510 RCV001868825 RCV005014657
NM_198129.4(LAMA3):c.5596C>T (p.Gln1866Ter)	SNV Germline	Chr18:23895041	Pathogenic	Laryngo-onycho-cutaneous syndrome	Criteria Provided Single Submitter	CA402046250	rs_763060857	1 SubmittersRCV002267790
NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)	SNV Germline	Chr18:23873213	Pathogenic	Laryngo-onycho-cutaneous syndrome	No Assertion Criteria Provided	CA402044831	rs_2511226024	1 SubmittersRCV002286451
NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)	SNV Germline	Chr18:23873091	Pathogenic	Laryngo-onycho-cutaneous syndrome	No Assertion Criteria Provided	CA402044566	rs_2511224829	1 SubmittersRCV002286452
NM_000227.6(LAMA3):c.139C>T (p.Gln47Ter)	SNV Germline	Chr18:23873183	Pathogenic/Likely pathogenic	Condition: not provided Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe LAMA3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8915826	rs_367651246	3 SubmittersRCV002725532 RCV005027920 RCV004736193
NM_198129.4(LAMA3):c.6319-1G>A	SNV Unknown	Chr18:23903932	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter	CA402049790	rs_2081155250	1 SubmittersRCV003147916 RCV003147917 RCV003147918
NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)	SNV Germline	Chr18:23928749	Pathogenic/Likely pathogenic	Condition: not provided Epidermolysis bullosa, junctional 2B, severe Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA402064235	rs_2511547994	2 SubmittersRCV003709214 RCV005014843
NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)	SNV Germline	Chr18:23928156	Pathogenic/Likely pathogenic	Condition: not provided Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Multiple Submitters No Conflicts	CA402063028	rs_2082061881	2 SubmittersRCV003728863 RCV005014918
NM_198129.4(LAMA3):c.4411C>T (p.Arg1471Ter)	SNV Germline	Chr18:23858818	Likely pathogenic	Laryngo-onycho-cutaneous syndrome	Criteria Provided Single Submitter	CA8915594	rs_761118747	1 SubmittersRCV004547341
NM_198129.4(LAMA3):c.1789-1G>C	SNV Germline	Chr18:23814402	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2A, intermediate Epidermolysis bullosa, junctional 2B, severe	Criteria Provided Single Submitter			1 SubmittersRCV004796909
NM_198129.4(LAMA3):c.5462-2A>G	SNV Germline	Chr18:23894905	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026179
NM_198129.4(LAMA3):c.5837-1G>A	SNV Germline	Chr18:23899287	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022845
NM_198129.4(LAMA3):c.5910G>A (p.Trp1970Ter)	SNV Germline	Chr18:23899361	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026180
NM_198129.4(LAMA3):c.6005T>A (p.Leu2002Ter)	SNV Germline	Chr18:23901127	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022847
NM_198129.4(LAMA3):c.6202-2A>G	SNV Germline	Chr18:23903007	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022848
NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)	SNV Germline	Chr18:23921054	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026181
NM_198129.4(LAMA3):c.8044-2A>C	SNV Germline	Chr18:23921450	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026182
NM_198129.4(LAMA3):c.8177+2T>A	SNV Germline	Chr18:23921587	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022851
NM_198129.4(LAMA3):c.8577-2A>G	SNV Germline	Chr18:23932158	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022852
NM_198129.4(LAMA3):c.9512-1G>A	SNV Germline	Chr18:23950028	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022855
NM_198129.4(LAMA3):c.4147A>T (p.Arg1383Ter)	SNV Germline	Chr18:23857854	Likely pathogenic	Laryngo-onycho-cutaneous syndrome Epidermolysis bullosa, junctional 2B, severe Epidermolysis bullosa, junctional 2A, intermediate Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Single Submitter			1 SubmittersRCV005398281

NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)

SNV
Germline

Chr18:23907639

Pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
Laryngo-onycho-cutaneous syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA254564

rs_137852757

4 SubmittersRCV000009337 RCV001781210 RCV002051619 RCV005003348

NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)

SNV
Germline

Chr18:23914721

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8916671

rs_139823161

4 SubmittersRCV000286404 RCV000341519 RCV000349331 RCV002519176

NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)

SNV
Germline

Chr18:23933902

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Laryngo-onycho-cutaneous syndrome
LAMA3-related disorder

Criteria Provided
Conflicting Classifications

CA8917012

rs_141472847

4 SubmittersRCV000275497 RCV000393646 RCV000386291 RCV004543140

NM_198129.4(LAMA3):c.5169T>C (p.Tyr1723=)

SNV
Germline

Chr18:23881992

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915917

rs_140561492

2 SubmittersRCV000261788 RCV000356671 RCV000913164

NM_198129.4(LAMA3):c.5223-13G>C

SNV
Germline

Chr18:23884760

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915947

rs_145241852

2 SubmittersRCV000317063 RCV000371576 RCV003556338

NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)

SNV
Germline

Chr18:23894967

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Conflicting Classifications

CA8916086

rs_144475991

2 SubmittersRCV000313197 RCV000906036 RCV000393787

NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)

SNV
Germline

Chr18:23898745

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916130

rs_139348197

3 SubmittersRCV000259838 RCV000305724 RCV000430413

NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)

SNV
Germline

Chr18:23899448

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641189

rs_564308785

2 SubmittersRCV000271921 RCV000326299 RCV002056653

NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu)

SNV
Germline

Chr18:23928227

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA8916882

rs_144549206

3 SubmittersRCV000298195 RCV000978409 RCV000393534 RCV005355645

NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=)

SNV
Germline

Chr18:23932247

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916982

rs_138908985

2 SubmittersRCV000301765 RCV000407499 RCV002521137

NM_198129.4(LAMA3):c.5613+13C>T

SNV
Germline

Chr18:23895071

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916108

rs_766241071

2 SubmittersRCV000349370 RCV000403350 RCV003574749

NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)

SNV
Germline

Chr18:23946174

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8917140

rs_35762515

4 SubmittersRCV000340030 RCV000671746 RCV000909523

NM_198129.4(LAMA3):c.9512-11T>C

SNV
Germline

Chr18:23950018

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8917215

rs_776372744

3 SubmittersRCV000370063 RCV000670657 RCV003718195

NM_000227.6(LAMA3):c.30C>T (p.Cys10=)

SNV
Germline

Chr18:23873074

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915809

rs_145044428

4 SubmittersRCV000312700 RCV000392165 RCV004984816 RCV000958234

NM_198129.4(LAMA3):c.5493C>T (p.Asn1831=)

SNV
Germline

Chr18:23894938

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8916071

rs_199982757

3 SubmittersRCV000288377 RCV000352614 RCV000901679 RCV004984817

NM_198129.4(LAMA3):c.6690C>T (p.Ala2230=)

SNV
Germline

Chr18:23905596

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650624

rs_886053673

2 SubmittersRCV000310287 RCV000405690 RCV002056654

NM_198129.4(LAMA3):c.7482-5A>C

SNV
Germline

Chr18:23914693

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916666

rs_780657629

2 SubmittersRCV000317140 RCV000371653 RCV000928693

NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=)

SNV
Germline

Chr18:23928138

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916871

rs_762861196

2 SubmittersRCV000292003 RCV000346792 RCV000942115

NM_198129.4(LAMA3):c.8283G>A (p.Ser2761=)

SNV
Germline

Chr18:23928228

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided
LAMA3-related disorder

Criteria Provided
Conflicting Classifications

CA8916883

rs_146634036

3 SubmittersRCV000267846 RCV000353042 RCV000912077 RCV004544588

NM_198129.4(LAMA3):c.9738C>T (p.Val3246=)

SNV
Germline

Chr18:23952991

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650628

rs_886053679

2 SubmittersRCV000260534 RCV000353122 RCV002521140

NM_198129.4(LAMA3):c.5304-4G>A

SNV
Germline

Chr18:23890007

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915994

rs_370409067

2 SubmittersRCV000267708 RCV000322614 RCV001476060

NM_198129.4(LAMA3):c.5410+10A>G

SNV
Germline

Chr18:23890127

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916021

rs_746263741

2 SubmittersRCV000347195 RCV000382866 RCV001469748

NM_198129.4(LAMA3):c.6202-12T>A

SNV
Germline

Chr18:23902997

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916307

rs_764177904

2 SubmittersRCV000292188 RCV000337853 RCV003556339

NM_198129.4(LAMA3):c.6616-13G>T

SNV
Germline

Chr18:23905509

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10651429

rs_886053672

3 SubmittersRCV000359180 RCV000671174 RCV003765891

NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)

SNV
Germline

Chr18:23909258

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916556

rs_563440658

2 SubmittersRCV000269259 RCV000364926 RCV002521135

NM_198129.4(LAMA3):c.7545C>T (p.Pro2515=)

SNV
Germline

Chr18:23914761

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916675

rs_145460785

2 SubmittersRCV000347110 RCV000407923 RCV000915210

NM_198129.4(LAMA3):c.7727A>G (p.Asn2576Ser)

SNV
Germline

Chr18:23915371

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
LAMA3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8916731

rs_781529313

4 SubmittersRCV000274407 RCV000368841 RCV000910522 RCV004537821 RCV005355644

NM_198129.4(LAMA3):c.8241C>T (p.Val2747=)

SNV
Germline

Chr18:23928186

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916876

rs_371174542

2 SubmittersRCV000350726 RCV000393543 RCV000929891

NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys)

SNV
Germline

Chr18:23932239

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916979

rs_199991488

2 SubmittersRCV000338183 RCV000407468 RCV002523036

NM_198129.4(LAMA3):c.9027-14G>A

SNV
Germline

Chr18:23943774

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8917085

rs_372927257

3 SubmittersRCV000279123 RCV000336555 RCV002504104 RCV002521139

NM_198129.4(LAMA3):c.7158+1G>A

SNV
Germline

Chr18:23909296

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041938

rs_1057516279

3 SubmittersRCV000411524 RCV002502419 RCV003660799

NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)

SNV
Germline

Chr18:23939301

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
LAMA3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8917040

rs_772038362

5 SubmittersRCV000520973 RCV000984192 RCV000763025 RCV000984191 RCV004537867

NM_198129.4(LAMA3):c.5112+1G>A

SNV
Germline

Chr18:23876408

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Epidermolysis bullosa, junctional 2A, intermediate
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Multiple Submitters
No Conflicts

CA402045096

rs_1057517023

4 SubmittersRCV000668353 RCV001222962 RCV004568515 RCV005027797

NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter)

SNV
Germline

Chr18:23933859

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

CA402067317

rs_1401574168

2 SubmittersRCV000673677 RCV005019159

NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)

SNV
Germline

Chr18:23933924

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8917013

rs_61752346

4 SubmittersRCV000671930 RCV001122530 RCV002060825 RCV002222599

NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)

SNV
Germline

Chr18:23861742

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
Laryngo-onycho-cutaneous syndrome

Criteria Provided
Single Submitter

CA8915632

rs_534665666

2 SubmittersRCV000664589 RCV004796270

NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)

SNV
Germline

Chr18:23867900

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915715

rs_552326056

3 SubmittersRCV000666415 RCV002477484 RCV002532051

NM_198129.4(LAMA3):c.5924G>A (p.Arg1975His)

SNV
Germline

Chr18:23899375

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome

Criteria Provided
Conflicting Classifications

CA8916219

rs_149809232

2 SubmittersRCV000970338 RCV001125779 RCV001125778

NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)

SNV
Germline

Chr18:23921039

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
LAMA3-related disorder

Criteria Provided
Conflicting Classifications

CA8916808

rs_35737354

4 SubmittersRCV000880302 RCV001125103 RCV001125104 RCV004530896

NM_198129.4(LAMA3):c.7740A>G (p.Thr2580=)

SNV
Germline

Chr18:23915384

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
LAMA3-related disorder

Criteria Provided
Conflicting Classifications

CA8916735

rs_145848988

4 SubmittersRCV000910225 RCV001128073 RCV001128074 RCV004533486

NM_198129.4(LAMA3):c.9165G>A (p.Leu3055=)

SNV
Germline

Chr18:23943926

Conflicting classifications of pathogenicity

Condition: not provided
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
LAMA3-related disorder

Criteria Provided
Conflicting Classifications

CA8917105

rs_370470226

3 SubmittersRCV000901168 RCV001125322 RCV001125323 RCV004531024

NM_198129.4(LAMA3):c.9209C>T (p.Thr3070Met)

SNV
Germline

Chr18:23943970

Conflicting classifications of pathogenicity

Condition: not provided
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8917115

rs_117056996

3 SubmittersRCV000905811 RCV001125324 RCV001125325 RCV002537592

NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)

SNV
Germline

Chr18:23915367

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome

Criteria Provided
Conflicting Classifications

CA8916728

rs_377097479

2 SubmittersRCV000912678 RCV001125967 RCV001125968

NM_198129.4(LAMA3):c.1154C>A (p.Ala385Asp)

SNV
Germline

Chr18:23763495

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Conflicting Classifications

CA8914487

rs_772044341

4 SubmittersRCV000913223 RCV004029357 RCV005392542

NM_198129.4(LAMA3):c.5340C>T (p.Phe1780=)

SNV
Germline

Chr18:23890047

Conflicting classifications of pathogenicity

Condition: not provided
Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Conflicting Classifications

CA8916005

rs_138524783

2 SubmittersRCV000979122 RCV001127795 RCV001127794

NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)

SNV
Germline

Chr18:23899393

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Junctional epidermolysis bullosa gravis of Herlitz
Epidermolysis bullosa, junctional 2B, severe
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8916226

rs_139393175

4 SubmittersRCV001125780 RCV001125781 RCV002497537 RCV002556725 RCV004986824

NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg)

SNV
Germline

Chr18:23914762

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8916676

rs_113624323

3 SubmittersRCV001124991 RCV001124992 RCV002556709 RCV002556708

NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)

SNV
Germline

Chr18:23915383

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Junctional epidermolysis bullosa gravis of Herlitz
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Conflicting Classifications

CA8916734

rs_61751705

4 SubmittersRCV001125969 RCV001125970 RCV002556732 RCV005394754

NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)

SNV
Germline

Chr18:23916617

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8916767

rs_773730834

2 SubmittersRCV001122315 RCV001122314 RCV001413588

NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)

SNV
Germline

Chr18:23932196

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA503341357

rs_1179461242

2 SubmittersRCV001125217 RCV001125218 RCV002070042

NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His)

SNV
Germline

Chr18:23949813

Conflicting classifications of pathogenicity

Laryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8917182

rs_139393524

2 SubmittersRCV001126291 RCV001126290 RCV002558244

NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)

SNV
Germline

Chr18:23932182

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa, junctional 2A, intermediate
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Multiple Submitters
No Conflicts

CA402065961

rs_2082180462

3 SubmittersRCV001224889 RCV004546620 RCV005021538

NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)

SNV
Germline

Chr18:23912756

Pathogenic

Junctional epidermolysis bullosa
Condition: not provided
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Multiple Submitters
No Conflicts

CA8916581

rs_777713989

3 SubmittersRCV001779510 RCV001868825 RCV005014657

NM_198129.4(LAMA3):c.5596C>T (p.Gln1866Ter)

SNV
Germline

Chr18:23895041

Pathogenic

Laryngo-onycho-cutaneous syndrome

Criteria Provided
Single Submitter

CA402046250

rs_763060857

1 SubmittersRCV002267790

NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr18:23873213

Pathogenic

Laryngo-onycho-cutaneous syndrome

No Assertion Criteria Provided

CA402044831

rs_2511226024

1 SubmittersRCV002286451

NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)

SNV
Germline

Chr18:23873091

Pathogenic

Laryngo-onycho-cutaneous syndrome

No Assertion Criteria Provided

CA402044566

rs_2511224829

1 SubmittersRCV002286452

NM_000227.6(LAMA3):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr18:23873183

Pathogenic/Likely pathogenic

Condition: not provided
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
LAMA3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8915826

rs_367651246

3 SubmittersRCV002725532 RCV005027920 RCV004736193

NM_198129.4(LAMA3):c.6319-1G>A

SNV
Unknown

Chr18:23903932

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

CA402049790

rs_2081155250

1 SubmittersRCV003147916 RCV003147917 RCV003147918

NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)

SNV
Germline

Chr18:23928749

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa, junctional 2B, severe
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA402064235

rs_2511547994

2 SubmittersRCV003709214 RCV005014843

NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)

SNV
Germline

Chr18:23928156

Pathogenic/Likely pathogenic

Condition: not provided
Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Multiple Submitters
No Conflicts

CA402063028

rs_2082061881

2 SubmittersRCV003728863 RCV005014918

NM_198129.4(LAMA3):c.4411C>T (p.Arg1471Ter)

SNV
Germline

Chr18:23858818

Likely pathogenic

Laryngo-onycho-cutaneous syndrome

Criteria Provided
Single Submitter

CA8915594

rs_761118747

1 SubmittersRCV004547341

NM_198129.4(LAMA3):c.1789-1G>C

SNV
Germline

Chr18:23814402

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe

Criteria Provided
Single Submitter

1 SubmittersRCV004796909

NM_198129.4(LAMA3):c.5462-2A>G

SNV
Germline

Chr18:23894905

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026179

NM_198129.4(LAMA3):c.5837-1G>A

SNV
Germline

Chr18:23899287

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022845

NM_198129.4(LAMA3):c.5910G>A (p.Trp1970Ter)

SNV
Germline

Chr18:23899361

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026180

NM_198129.4(LAMA3):c.6005T>A (p.Leu2002Ter)

SNV
Germline

Chr18:23901127

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022847

NM_198129.4(LAMA3):c.6202-2A>G

SNV
Germline

Chr18:23903007

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022848

NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)

SNV
Germline

Chr18:23921054

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026181

NM_198129.4(LAMA3):c.8044-2A>C

SNV
Germline

Chr18:23921450

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026182

NM_198129.4(LAMA3):c.8177+2T>A

SNV
Germline

Chr18:23921587

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022851

NM_198129.4(LAMA3):c.8577-2A>G

SNV
Germline

Chr18:23932158

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022852

NM_198129.4(LAMA3):c.9512-1G>A

SNV
Germline

Chr18:23950028

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022855

NM_198129.4(LAMA3):c.4147A>T (p.Arg1383Ter)

SNV
Germline

Chr18:23857854

Likely pathogenic

Laryngo-onycho-cutaneous syndrome
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 2A, intermediate
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Single Submitter

1 SubmittersRCV005398281