Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	SNV Germline	Chr1:209625721	Pathogenic	Condition: not provided Junctional epidermolysis bullosa Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type LAMB3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257272	rs_80356682	21 SubmittersRCV000255105 RCV000778963 RCV000762876 RCV000015638 RCV000015639 RCV003952359
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	SNV Germline	Chr1:209650023	Pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz type LAMB3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341329	rs_80356680	10 SubmittersRCV000015641 RCV000261136 RCV000762879 RCV001193779 RCV003904843
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	SNV Germline	Chr1:209633070	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Junctional epidermolysis bullosa Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA257275	rs_121912482	6 SubmittersRCV000015644 RCV001560565 RCV003155026 RCV005016269
NM_000228.3(LAMB3):c.628+42G>A	SNV Somatic	Chr1:209633028	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz	No Assertion Criteria Provided	CA257284	rs_587776812	2 SubmittersRCV000015650 RCV000675171
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)	SNV Somatic	Chr1:209633102	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz	No Assertion Criteria Provided	CA257285	rs_121912486	2 SubmittersRCV000015651 RCV000675069
NM_000228.3(LAMB3):c.565-3T>C	SNV Somatic	Chr1:209633136	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	No Assertion Criteria Provided	CA257286	rs_587776813	1 SubmittersRCV000015652
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)	SNV Somatic	Chr1:209633079	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	No Assertion Criteria Provided	CA257287	rs_121912487	1 SubmittersRCV000015653
NM_000228.3(LAMB3):c.629-1G>A	SNV Somatic	Chr1:209632777	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	No Assertion Criteria Provided	CA257288	rs_587776814	1 SubmittersRCV000015654
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)	SNV Germline	Chr1:209632678	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Junctional epidermolysis bullosa Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA341658	rs_80356681	8 SubmittersRCV000020223 RCV000578876 RCV001201255 RCV005394172
NM_000228.3(LAMB3):c.1133-22G>A	SNV Germline	Chr1:209628212	Pathogenic	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Multiple Submitters No Conflicts	CA1375682	rs_767847211	3 SubmittersRCV001035229 RCV005016464 RCV004567160
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)	SNV Germline	Chr1:209623999	Pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA274294	rs_146794392	5 SubmittersRCV000169424 RCV000579120 RCV005016515
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	SNV Germline	Chr1:209625919	Pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Multiple Submitters No Conflicts	CA273928	rs_201551805	8 SubmittersRCV000169086 RCV000254699 RCV001808441 RCV005016511
NM_000228.3(LAMB3):c.565-2A>G	SNV Germline	Chr1:209633135	Pathogenic	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA274032	rs_370148688	4 SubmittersRCV000812274 RCV001810431 RCV005406877
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)	SNV Germline	Chr1:183207997	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Conflicting Classifications	CA241587	rs_146325169	5 SubmittersRCV000175807 RCV000283518 RCV001731418
NM_000494.4(COL17A1):c.2971G>A (p.Val991Met)	SNV Germline	Chr10:104038505	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided COL17A1-related disorder	Criteria Provided Conflicting Classifications	CA5678145	rs_138824013	4 SubmittersRCV000490285 RCV000906540 RCV003917861
NM_000213.5(ITGB4):c.5329+2T>C	SNV Germline	Chr17:75757312	Likely pathogenic	Epidermolysis bullosa simplex 1C, localized Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA8770556	rs_762236241	1 SubmittersRCV000490437
NM_000228.3(LAMB3):c.1132+5G>A	SNV Germline	Chr1:209629732	Pathogenic/Likely pathogenic	Condition: not provided Junctional epidermolysis bullosa Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA1375693	rs_770302956	4 SubmittersRCV000255633 RCV000778964 RCV002494799
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)	SNV Germline	Chr1:209629818	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa Condition: not provided LAMB3-related disorder Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Conflicting Classifications	CA1375710	rs_114875539	7 SubmittersRCV000336074 RCV000895334 RCV003920197 RCV005396919 RCV001526746
NM_000228.3(LAMB3):c.777C>T (p.Cys259=)	SNV Germline	Chr1:209632628	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Conflicting Classifications	CA1375849	rs_146529524	3 SubmittersRCV000315681 RCV000918338 RCV001564002 RCV001564001
NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg)	SNV Germline	Chr1:209615311	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz Amelogenesis imperfecta type 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1374844	rs_147931502	4 SubmittersRCV000321360 RCV005396915 RCV000957522 RCV004984786
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)	SNV Germline	Chr10:104043852	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Epidermolysis bullosa, junctional 4, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA5678484	rs_752317971	5 SubmittersRCV000376543 RCV000493431 RCV002279955
NM_000494.4(COL17A1):c.1830C>T (p.Ser610=)	SNV Germline	Chr10:104053924	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA10627999	rs_886046688	2 SubmittersRCV000370321 RCV003765752
NM_000494.4(COL17A1):c.1212C>T (p.Ala404=)	SNV Germline	Chr10:104059648	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679133	rs_146490594	2 SubmittersRCV000309600 RCV000950435
NM_000494.4(COL17A1):c.3190G>A (p.Val1064Ile)	SNV Germline	Chr10:104037654	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678078	rs_567623265	3 SubmittersRCV000291025 RCV003727652
NM_000494.4(COL17A1):c.2764C>A (p.Pro922Thr)	SNV Germline	Chr10:104039997	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5678269	rs_148761230	4 SubmittersRCV000298231 RCV000883901 RCV004021464
NM_000494.4(COL17A1):c.2451C>T (p.Leu817=)	SNV Germline	Chr10:104043565	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678457	rs_138844452	2 SubmittersRCV000270562 RCV003718158
NM_000494.4(COL17A1):c.2362+7C>T	SNV Germline	Chr10:104046740	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Epidermolysis bullosa, junctional 4, intermediate Epithelial recurrent erosion dystrophy	Criteria Provided Conflicting Classifications	CA5678531	rs_199555448	3 SubmittersRCV000341772 RCV003698759 RCV005355625
NM_000494.4(COL17A1):c.1761T>C (p.Pro587=)	SNV Germline	Chr10:104054102	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678886	rs_200370596	3 SubmittersRCV000268822 RCV002520537
NM_000494.4(COL17A1):c.1587C>T (p.Pro529=)	SNV Germline	Chr10:104055882	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678987	rs_376179264	2 SubmittersRCV000267054 RCV003718159
NM_000494.4(COL17A1):c.1557A>C (p.Ile519=)	SNV Germline	Chr10:104055912	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided COL17A1-related disorder	Criteria Provided Conflicting Classifications	CA5678991	rs_780065996	3 SubmittersRCV000324581 RCV003718160 RCV003920222
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)	SNV Germline	Chr10:104057101	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Epithelial recurrent erosion dystrophy	Criteria Provided Conflicting Classifications	CA5679060	rs_200223042	4 SubmittersRCV000293178 RCV000894766 RCV005208135
NM_000494.4(COL17A1):c.97+11A>T	SNV Germline	Chr10:104078531	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679577	rs_199560359	2 SubmittersRCV000282279 RCV003765757
NM_000494.4(COL17A1):c.4438+13T>C	SNV Germline	Chr10:104032661	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA10634488	rs_886046682	2 SubmittersRCV000348236 RCV003765750
NM_000494.4(COL17A1):c.3213G>A (p.Ser1071=)	SNV Germline	Chr10:104037109	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678057	rs_147011538	4 SubmittersRCV000345814 RCV003422219
NM_000494.4(COL17A1):c.1375G>A (p.Gly459Ser)	SNV Germline	Chr10:104057065	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5679050	rs_151271674	3 SubmittersRCV000337304 RCV002522139 RCV003546506
NM_000494.4(COL17A1):c.681G>C (p.Ala227=)	SNV Germline	Chr10:104064523	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA10634522	rs_756738076	2 SubmittersRCV000259334 RCV003765755
NM_000494.4(COL17A1):c.3825C>A (p.Pro1275=)	SNV Germline	Chr10:104034276	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA10634863	rs_886046684	2 SubmittersRCV000268163 RCV003660777
NM_000494.4(COL17A1):c.1687+15G>A	SNV Germline	Chr10:104055767	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678954	rs_77525709	2 SubmittersRCV000272504 RCV003765754
NM_000494.4(COL17A1):c.1081C>G (p.Leu361Val)	SNV Germline	Chr10:104060179	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided Inborn genetic diseases COL17A1-related disorder	Criteria Provided Conflicting Classifications	CA5679175	rs_151052547	4 SubmittersRCV000366673 RCV002059520 RCV003165809 RCV004742373
NM_000494.4(COL17A1):c.369G>A (p.Arg123=)	SNV Germline	Chr10:104074194	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679470	rs_769653136	2 SubmittersRCV000295111 RCV003765756
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	SNV Germline	Chr1:183243203	Pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type Epidermolysis bullosa, junctional 3B, severe Junctional epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA1283246	rs_201307156	5 SubmittersRCV000411632 RCV001386477 RCV001731663 RCV004820844 RCV005055948
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr1:209629752	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA16040695	rs_1057517096	6 SubmittersRCV000411684 RCV000778965 RCV001383403 RCV003114525
NM_000228.3(LAMB3):c.372+2T>G	SNV Germline	Chr1:209637906	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA16040708	rs_1057516675	2 SubmittersRCV000411435 RCV005010291
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	SNV Germline	Chr1:209629852	Pathogenic	Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA1375717	rs_774174881	3 SubmittersRCV000414030 RCV000762878
NM_000228.3(LAMB3):c.3383-1G>A	SNV Germline	Chr1:209615408	Likely pathogenic	Amelogenesis imperfecta type 1A Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344581377	rs_1553275070	2 SubmittersRCV000519434 RCV005018740
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)	SNV Germline	Chr1:209638591	Pathogenic	Condition: not provided Junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Multiple Submitters No Conflicts	CA16617045	rs_1064793896	5 SubmittersRCV000485788 RCV001269275 RCV005018797
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)	SNV Germline	Chr10:104080649	Pathogenic	Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA5679618	rs_775196743	4 SubmittersRCV000489975 RCV000991294 RCV005239089
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	SNV Germline	Chr1:209618044	Pathogenic	Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA1375045	rs_747916314	5 SubmittersRCV000522804 RCV002490897 RCV002468942 RCV003338631 RCV003338632
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.7654C>T (p.Arg2552Ter)	SNV Germline	Chr18:23915298	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA402058100	rs_1181742615	2 SubmittersRCV000598174
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)	SNV Germline	Chr1:209618013	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa gravis of Herlitz Condition: not provided Junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Conflicting Classifications	CA1375035	rs_140769823	5 SubmittersRCV000671935 RCV000882135 RCV001096869 RCV005392269
NM_000228.3(LAMB3):c.1597+1G>T	SNV Germline	Chr1:209626866	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344590046	rs_1553277072	3 SubmittersRCV000672331 RCV005010667 RCV003558515
NM_000228.3(LAMB3):c.1288+1G>T	SNV Germline	Chr1:209628034	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344591387	rs_1186161867	3 SubmittersRCV000666447 RCV000762877 RCV002530685
NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)	SNV Germline	Chr10:104076418	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Epidermolysis bullosa, junctional 4, intermediate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5679516	rs_760094345	3 SubmittersRCV000710066 RCV003444654 RCV003768096
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met)	SNV Germline	Chr18:23857953	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA8915544	rs_77331026	2 SubmittersRCV000714790 RCV000966050
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)	SNV Germline	Chr1:183243272	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343663124	rs_1217053724	2 SubmittersRCV000761249 RCV000760921
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)	SNV Germline	Chr1:209638547	Pathogenic	Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA344597582	rs_1558163550	2 SubmittersRCV000760426 RCV005021148
NM_000494.4(COL17A1):c.2336-2A>G	SNV Germline	Chr10:104046775	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Epidermolysis bullosa, junctional 4, intermediate	Criteria Provided Single Submitter	CA378068961	rs_1478395810	2 SubmittersRCV000778270 RCV002279941
NM_000494.4(COL17A1):c.839-10G>A	SNV Germline	Chr10:104062339	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Conflicting Classifications	CA5679257	rs_199952824	2 SubmittersRCV000897658 RCV001102933
NM_000228.3(LAMB3):c.405C>T (p.Arg135=)	SNV Germline	Chr1:209634606	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Conflicting Classifications	CA36761137	rs_1007125449	2 SubmittersRCV000976444 RCV001563999 RCV001564000
NM_000228.3(LAMB3):c.3228+1G>A	SNV Germline	Chr1:209617409	Pathogenic	Condition: not provided Junctional epidermolysis bullosa Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA1374946	rs_778026407	3 SubmittersRCV001041797 RCV001779106 RCV002481890
NM_000494.4(COL17A1):c.3456G>A (p.Gly1152=)	SNV Germline	Chr10:104035526	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA471342506	rs_547446962	2 SubmittersRCV001104552 RCV003769090
NM_000494.4(COL17A1):c.2145A>G (p.Lys715=)	SNV Germline	Chr10:104050108	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA471349021	rs_2086453392	2 SubmittersRCV001108052 RCV003708564
NM_000494.4(COL17A1):c.771C>T (p.Phe257=)	SNV Germline	Chr10:104063814	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679293	rs_747029963	2 SubmittersRCV001102934 RCV003718321
NM_000494.4(COL17A1):c.759G>A (p.Ala253=)	SNV Germline	Chr10:104064445	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679317	rs_199950802	2 SubmittersRCV001102935 RCV003574824
NM_000494.4(COL17A1):c.186C>T (p.Ser62=)	SNV Germline	Chr10:104077438	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679538	rs_149685665	2 SubmittersRCV001108224 RCV003688900
NM_000494.4(COL17A1):c.3508+13A>G	SNV Germline	Chr10:104035461	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA1139661682	rs_2086270467	2 SubmittersRCV001102643 RCV003769075
NM_000494.4(COL17A1):c.3277+14G>C	SNV Germline	Chr10:104037031	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678041	rs_139559830	2 SubmittersRCV001104556 RCV003769091
NM_000494.4(COL17A1):c.3209-8C>T	SNV Germline	Chr10:104037121	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678060	rs_573018433	2 SubmittersRCV001107311 RCV003769103
NM_000494.4(COL17A1):c.2788+13C>T	SNV Germline	Chr10:104039960	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678260	rs_368380054	2 SubmittersRCV001102732 RCV003769078
NM_000494.4(COL17A1):c.2701+12G>C	SNV Germline	Chr10:104041053	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5678320	rs_373581383	2 SubmittersRCV001104653 RCV003769092
NM_000494.4(COL17A1):c.979+13C>T	SNV Germline	Chr10:104061392	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Conflicting Classifications	CA5679209	rs_200676060	2 SubmittersRCV001102930 RCV003769079
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)	SNV Unknown	Chr10:104070528	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA378079125	rs_1564684815	1 SubmittersRCV001331280
NM_000228.3(LAMB3):c.28+1G>T	SNV Germline	Chr1:209650916	Likely pathogenic	Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA344566417	rs_113077137	2 SubmittersRCV001376944 RCV005014510
NM_000228.3(LAMB3):c.823-1G>A	SNV Germline	Chr1:209630736	Pathogenic	Condition: not provided Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA344593909	rs_778372285	3 SubmittersRCV001383404 RCV001810505
NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)	SNV Germline	Chr10:104034060	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	No Assertion Criteria Provided	CA378065096	rs_945600680	1 SubmittersRCV001528110
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)	SNV Germline	Chr1:209616606	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Epidermolysis bullosa	Criteria Provided Single Submitter	CA344582365	rs_2102403618	1 SubmittersRCV001733642 RCV004798922
NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)	SNV Germline	Chr1:183243269	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA343663115	rs_2102258267	1 SubmittersRCV001806359
NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)	SNV Germline	Chr10:104035287	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA378066251	rs_2134567157	1 SubmittersRCV001823566
NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)	SNV Germline	Chr10:104070524	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA5679391	rs_763578030	1 SubmittersRCV001823665
NM_000228.3(LAMB3):c.628+2T>A	SNV Germline	Chr1:209633068	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344594858	rs_1666753666	3 SubmittersRCV002244290 RCV002247709 RCV003774695
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)	SNV Germline	Chr1:183228555	Pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA343689340	rs_200783718	1 SubmittersRCV002250942
NM_000228.3(LAMB3):c.298+5G>C	SNV Germline	Chr1:209638529	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa gravis of Herlitz	Criteria Provided Conflicting Classifications	CA1376047	rs_754529975	2 SubmittersRCV002283838 RCV005252147
NM_000228.3(LAMB3):c.3226G>T (p.Glu1076Ter)	SNV Unknown	Chr1:209617412	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344583512	rs_2464752372	1 SubmittersRCV002309939
NM_000228.3(LAMB3):c.1435G>T (p.Glu479Ter)	SNV Unknown	Chr1:209627433	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344591057	rs_2464831167	1 SubmittersRCV002308369
NM_000228.3(LAMB3):c.81T>A (p.Tyr27Ter)	SNV Unknown	Chr1:209650066	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344566307	rs_2464954277	1 SubmittersRCV002309202
NM_000228.3(LAMB3):c.421A>T (p.Lys141Ter)	SNV Unknown	Chr1:209634590	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344596149	rs_2464880318	1 SubmittersRCV002309243
NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)	SNV Unknown	Chr1:209628119	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344591745	rs_2464837989	1 SubmittersRCV002309527
NM_000228.3(LAMB3):c.2166C>A (p.Tyr722Ter)	SNV Unknown	Chr1:209623697	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344588584	rs_552611500	1 SubmittersRCV002310193
NM_000228.3(LAMB3):c.2327C>A (p.Ser776Ter)	SNV Unknown	Chr1:209623536	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344588264	rs_748475714	1 SubmittersRCV002310240
NM_000228.3(LAMB3):c.444C>G (p.Tyr148Ter)	SNV Unknown	Chr1:209634567	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344596054	rs_200607251	1 SubmittersRCV002310261
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)	SNV Germline	Chr1:209627458	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Conflicting Classifications	CA344591114	rs_2464831400	2 SubmittersRCV002997042 RCV003989799
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)	SNV Germline	Chr1:209623621	Pathogenic/Likely pathogenic	Condition: not provided Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Multiple Submitters No Conflicts	CA344588427	rs_369131781	2 SubmittersRCV003013747 RCV005019560
NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)	SNV Germline	Chr1:209630667	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	No Assertion Criteria Provided	CA344593548	rs_371462192	1 SubmittersRCV003149118
NM_000494.4(COL17A1):c.464-2A>G	SNV Germline	Chr10:104070571	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA378079219	rs_2493375635	1 SubmittersRCV003388764
NM_000228.3(LAMB3):c.2701+2T>C	SNV Germline	Chr1:209622534	Likely pathogenic	Amelogenesis imperfecta type 1A Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344586930	rs_2464785458	2 SubmittersRCV005014839 RCV003682475
NM_000228.3(LAMB3):c.1598-1G>T	SNV Germline	Chr1:209626027	Likely pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	Criteria Provided Single Submitter	CA344590037	rs_2464820641	1 SubmittersRCV003990755
NM_000228.3(LAMB3):c.3004C>T (p.Gln1002Ter)	SNV Germline	Chr1:209617954	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017488
NM_000228.3(LAMB3):c.1485+1G>A	SNV Germline	Chr1:209627382	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017524
NM_000228.3(LAMB3):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr1:209628131	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017554
NM_000228.3(LAMB3):c.568C>T (p.Gln190Ter)	SNV Germline	Chr1:209633130	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017573
NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)	SNV Germline	Chr1:209634479	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017578
NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)	SNV Germline	Chr1:209650066	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa, non-Herlitz type Amelogenesis imperfecta type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005017605

NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)

SNV
Germline

Chr1:209625721

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
LAMB3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257272

rs_80356682

21 SubmittersRCV000255105 RCV000778963 RCV000762876 RCV000015638 RCV000015639 RCV003952359

NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)

SNV
Germline

Chr1:209650023

Pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
LAMB3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341329

rs_80356680

10 SubmittersRCV000015641 RCV000261136 RCV000762879 RCV001193779 RCV003904843

NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)

SNV
Germline

Chr1:209633070

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Junctional epidermolysis bullosa
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA257275

rs_121912482

6 SubmittersRCV000015644 RCV001560565 RCV003155026 RCV005016269

NM_000228.3(LAMB3):c.628+42G>A

SNV
Somatic

Chr1:209633028

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz

No Assertion Criteria Provided

CA257284

rs_587776812

2 SubmittersRCV000015650 RCV000675171

NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)

SNV
Somatic

Chr1:209633102

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz

No Assertion Criteria Provided

CA257285

rs_121912486

2 SubmittersRCV000015651 RCV000675069

NM_000228.3(LAMB3):c.565-3T>C

SNV
Somatic

Chr1:209633136

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

No Assertion Criteria Provided

CA257286

rs_587776813

1 SubmittersRCV000015652

NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)

SNV
Somatic

Chr1:209633079

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

No Assertion Criteria Provided

CA257287

rs_121912487

1 SubmittersRCV000015653

NM_000228.3(LAMB3):c.629-1G>A

SNV
Somatic

Chr1:209632777

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

No Assertion Criteria Provided

CA257288

rs_587776814

1 SubmittersRCV000015654

NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr1:209632678

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Junctional epidermolysis bullosa
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA341658

rs_80356681

8 SubmittersRCV000020223 RCV000578876 RCV001201255 RCV005394172

NM_000228.3(LAMB3):c.1133-22G>A

SNV
Germline

Chr1:209628212

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Multiple Submitters
No Conflicts

CA1375682

rs_767847211

3 SubmittersRCV001035229 RCV005016464 RCV004567160

NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)

SNV
Germline

Chr1:209623999

Pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA274294

rs_146794392

5 SubmittersRCV000169424 RCV000579120 RCV005016515

NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)

SNV
Germline

Chr1:209625919

Pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Amelogenesis imperfecta type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA273928

rs_201551805

8 SubmittersRCV000169086 RCV000254699 RCV001808441 RCV005016511

NM_000228.3(LAMB3):c.565-2A>G

SNV
Germline

Chr1:209633135

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA274032

rs_370148688

4 SubmittersRCV000812274 RCV001810431 RCV005406877

NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)

SNV
Germline

Chr1:183207997

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Conflicting Classifications

CA241587

rs_146325169

5 SubmittersRCV000175807 RCV000283518 RCV001731418

NM_000494.4(COL17A1):c.2971G>A (p.Val991Met)

SNV
Germline

Chr10:104038505

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
COL17A1-related disorder

Criteria Provided
Conflicting Classifications

CA5678145

rs_138824013

4 SubmittersRCV000490285 RCV000906540 RCV003917861

NM_000213.5(ITGB4):c.5329+2T>C

SNV
Germline

Chr17:75757312

Likely pathogenic

Epidermolysis bullosa simplex 1C, localized
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA8770556

rs_762236241

1 SubmittersRCV000490437

NM_000228.3(LAMB3):c.1132+5G>A

SNV
Germline

Chr1:209629732

Pathogenic/Likely pathogenic

Condition: not provided
Junctional epidermolysis bullosa
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA1375693

rs_770302956

4 SubmittersRCV000255633 RCV000778964 RCV002494799

NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)

SNV
Germline

Chr1:209629818

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa
Condition: not provided
LAMB3-related disorder
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Conflicting Classifications

CA1375710

rs_114875539

7 SubmittersRCV000336074 RCV000895334 RCV003920197 RCV005396919 RCV001526746

NM_000228.3(LAMB3):c.777C>T (p.Cys259=)

SNV
Germline

Chr1:209632628

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa
Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Conflicting Classifications

CA1375849

rs_146529524

3 SubmittersRCV000315681 RCV000918338 RCV001564002 RCV001564001

NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg)

SNV
Germline

Chr1:209615311

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz
Amelogenesis imperfecta type 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1374844

rs_147931502

4 SubmittersRCV000321360 RCV005396915 RCV000957522 RCV004984786

NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)

SNV
Germline

Chr10:104043852

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Epidermolysis bullosa, junctional 4, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA5678484

rs_752317971

5 SubmittersRCV000376543 RCV000493431 RCV002279955

NM_000494.4(COL17A1):c.1830C>T (p.Ser610=)

SNV
Germline

Chr10:104053924

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627999

rs_886046688

2 SubmittersRCV000370321 RCV003765752

NM_000494.4(COL17A1):c.1212C>T (p.Ala404=)

SNV
Germline

Chr10:104059648

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679133

rs_146490594

2 SubmittersRCV000309600 RCV000950435

NM_000494.4(COL17A1):c.3190G>A (p.Val1064Ile)

SNV
Germline

Chr10:104037654

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678078

rs_567623265

3 SubmittersRCV000291025 RCV003727652

NM_000494.4(COL17A1):c.2764C>A (p.Pro922Thr)

SNV
Germline

Chr10:104039997

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5678269

rs_148761230

4 SubmittersRCV000298231 RCV000883901 RCV004021464

NM_000494.4(COL17A1):c.2451C>T (p.Leu817=)

SNV
Germline

Chr10:104043565

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678457

rs_138844452

2 SubmittersRCV000270562 RCV003718158

NM_000494.4(COL17A1):c.2362+7C>T

SNV
Germline

Chr10:104046740

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Epidermolysis bullosa, junctional 4, intermediate
Epithelial recurrent erosion dystrophy

Criteria Provided
Conflicting Classifications

CA5678531

rs_199555448

3 SubmittersRCV000341772 RCV003698759 RCV005355625

NM_000494.4(COL17A1):c.1761T>C (p.Pro587=)

SNV
Germline

Chr10:104054102

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678886

rs_200370596

3 SubmittersRCV000268822 RCV002520537

NM_000494.4(COL17A1):c.1587C>T (p.Pro529=)

SNV
Germline

Chr10:104055882

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678987

rs_376179264

2 SubmittersRCV000267054 RCV003718159

NM_000494.4(COL17A1):c.1557A>C (p.Ile519=)

SNV
Germline

Chr10:104055912

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
COL17A1-related disorder

Criteria Provided
Conflicting Classifications

CA5678991

rs_780065996

3 SubmittersRCV000324581 RCV003718160 RCV003920222

NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)

SNV
Germline

Chr10:104057101

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Epithelial recurrent erosion dystrophy

Criteria Provided
Conflicting Classifications

CA5679060

rs_200223042

4 SubmittersRCV000293178 RCV000894766 RCV005208135

NM_000494.4(COL17A1):c.97+11A>T

SNV
Germline

Chr10:104078531

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679577

rs_199560359

2 SubmittersRCV000282279 RCV003765757

NM_000494.4(COL17A1):c.4438+13T>C

SNV
Germline

Chr10:104032661

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634488

rs_886046682

2 SubmittersRCV000348236 RCV003765750

NM_000494.4(COL17A1):c.3213G>A (p.Ser1071=)

SNV
Germline

Chr10:104037109

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678057

rs_147011538

4 SubmittersRCV000345814 RCV003422219

NM_000494.4(COL17A1):c.1375G>A (p.Gly459Ser)

SNV
Germline

Chr10:104057065

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679050

rs_151271674

3 SubmittersRCV000337304 RCV002522139 RCV003546506

NM_000494.4(COL17A1):c.681G>C (p.Ala227=)

SNV
Germline

Chr10:104064523

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634522

rs_756738076

2 SubmittersRCV000259334 RCV003765755

NM_000494.4(COL17A1):c.3825C>A (p.Pro1275=)

SNV
Germline

Chr10:104034276

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634863

rs_886046684

2 SubmittersRCV000268163 RCV003660777

NM_000494.4(COL17A1):c.1687+15G>A

SNV
Germline

Chr10:104055767

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678954

rs_77525709

2 SubmittersRCV000272504 RCV003765754

NM_000494.4(COL17A1):c.1081C>G (p.Leu361Val)

SNV
Germline

Chr10:104060179

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided
Inborn genetic diseases
COL17A1-related disorder

Criteria Provided
Conflicting Classifications

CA5679175

rs_151052547

4 SubmittersRCV000366673 RCV002059520 RCV003165809 RCV004742373

NM_000494.4(COL17A1):c.369G>A (p.Arg123=)

SNV
Germline

Chr10:104074194

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679470

rs_769653136

2 SubmittersRCV000295111 RCV003765756

NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)

SNV
Germline

Chr1:183243203

Pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa, junctional 3B, severe
Junctional epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA1283246

rs_201307156

5 SubmittersRCV000411632 RCV001386477 RCV001731663 RCV004820844 RCV005055948

NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr1:209629752

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa
Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA16040695

rs_1057517096

6 SubmittersRCV000411684 RCV000778965 RCV001383403 RCV003114525

NM_000228.3(LAMB3):c.372+2T>G

SNV
Germline

Chr1:209637906

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA16040708

rs_1057516675

2 SubmittersRCV000411435 RCV005010291

NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)

SNV
Germline

Chr1:209629852

Pathogenic

Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA1375717

rs_774174881

3 SubmittersRCV000414030 RCV000762878

NM_000228.3(LAMB3):c.3383-1G>A

SNV
Germline

Chr1:209615408

Likely pathogenic

Amelogenesis imperfecta type 1A
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344581377

rs_1553275070

2 SubmittersRCV000519434 RCV005018740

NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)

SNV
Germline

Chr1:209638591

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Amelogenesis imperfecta type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16617045

rs_1064793896

5 SubmittersRCV000485788 RCV001269275 RCV005018797

NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)

SNV
Germline

Chr10:104080649

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA5679618

rs_775196743

4 SubmittersRCV000489975 RCV000991294 RCV005239089

NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)

SNV
Germline

Chr1:209618044

Pathogenic

Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA1375045

rs_747916314

5 SubmittersRCV000522804 RCV002490897 RCV002468942 RCV003338631 RCV003338632

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.7654C>T (p.Arg2552Ter)

SNV
Germline

Chr18:23915298

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA402058100

rs_1181742615

2 SubmittersRCV000598174

NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)

SNV
Germline

Chr1:209618013

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa gravis of Herlitz
Condition: not provided
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Amelogenesis imperfecta type 1A

Criteria Provided
Conflicting Classifications

CA1375035

rs_140769823

5 SubmittersRCV000671935 RCV000882135 RCV001096869 RCV005392269

NM_000228.3(LAMB3):c.1597+1G>T

SNV
Germline

Chr1:209626866

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344590046

rs_1553277072

3 SubmittersRCV000672331 RCV005010667 RCV003558515

NM_000228.3(LAMB3):c.1288+1G>T

SNV
Germline

Chr1:209628034

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344591387

rs_1186161867

3 SubmittersRCV000666447 RCV000762877 RCV002530685

NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)

SNV
Germline

Chr10:104076418

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa, junctional 4, intermediate
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5679516

rs_760094345

3 SubmittersRCV000710066 RCV003444654 RCV003768096

NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met)

SNV
Germline

Chr18:23857953

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8915544

rs_77331026

2 SubmittersRCV000714790 RCV000966050

NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)

SNV
Germline

Chr1:183243272

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343663124

rs_1217053724

2 SubmittersRCV000761249 RCV000760921

NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)

SNV
Germline

Chr1:209638547

Pathogenic

Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA344597582

rs_1558163550

2 SubmittersRCV000760426 RCV005021148

NM_000494.4(COL17A1):c.2336-2A>G

SNV
Germline

Chr10:104046775

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa, junctional 4, intermediate

Criteria Provided
Single Submitter

CA378068961

rs_1478395810

2 SubmittersRCV000778270 RCV002279941

NM_000494.4(COL17A1):c.839-10G>A

SNV
Germline

Chr10:104062339

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Conflicting Classifications

CA5679257

rs_199952824

2 SubmittersRCV000897658 RCV001102933

NM_000228.3(LAMB3):c.405C>T (p.Arg135=)

SNV
Germline

Chr1:209634606

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Conflicting Classifications

CA36761137

rs_1007125449

2 SubmittersRCV000976444 RCV001563999 RCV001564000

NM_000228.3(LAMB3):c.3228+1G>A

SNV
Germline

Chr1:209617409

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA1374946

rs_778026407

3 SubmittersRCV001041797 RCV001779106 RCV002481890

NM_000494.4(COL17A1):c.3456G>A (p.Gly1152=)

SNV
Germline

Chr10:104035526

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471342506

rs_547446962

2 SubmittersRCV001104552 RCV003769090

NM_000494.4(COL17A1):c.2145A>G (p.Lys715=)

SNV
Germline

Chr10:104050108

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471349021

rs_2086453392

2 SubmittersRCV001108052 RCV003708564

NM_000494.4(COL17A1):c.771C>T (p.Phe257=)

SNV
Germline

Chr10:104063814

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679293

rs_747029963

2 SubmittersRCV001102934 RCV003718321

NM_000494.4(COL17A1):c.759G>A (p.Ala253=)

SNV
Germline

Chr10:104064445

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679317

rs_199950802

2 SubmittersRCV001102935 RCV003574824

NM_000494.4(COL17A1):c.186C>T (p.Ser62=)

SNV
Germline

Chr10:104077438

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679538

rs_149685665

2 SubmittersRCV001108224 RCV003688900

NM_000494.4(COL17A1):c.3508+13A>G

SNV
Germline

Chr10:104035461

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139661682

rs_2086270467

2 SubmittersRCV001102643 RCV003769075

NM_000494.4(COL17A1):c.3277+14G>C

SNV
Germline

Chr10:104037031

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678041

rs_139559830

2 SubmittersRCV001104556 RCV003769091

NM_000494.4(COL17A1):c.3209-8C>T

SNV
Germline

Chr10:104037121

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678060

rs_573018433

2 SubmittersRCV001107311 RCV003769103

NM_000494.4(COL17A1):c.2788+13C>T

SNV
Germline

Chr10:104039960

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678260

rs_368380054

2 SubmittersRCV001102732 RCV003769078

NM_000494.4(COL17A1):c.2701+12G>C

SNV
Germline

Chr10:104041053

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5678320

rs_373581383

2 SubmittersRCV001104653 RCV003769092

NM_000494.4(COL17A1):c.979+13C>T

SNV
Germline

Chr10:104061392

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5679209

rs_200676060

2 SubmittersRCV001102930 RCV003769079

NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)

SNV
Unknown

Chr10:104070528

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA378079125

rs_1564684815

1 SubmittersRCV001331280

NM_000228.3(LAMB3):c.28+1G>T

SNV
Germline

Chr1:209650916

Likely pathogenic

Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA344566417

rs_113077137

2 SubmittersRCV001376944 RCV005014510

NM_000228.3(LAMB3):c.823-1G>A

SNV
Germline

Chr1:209630736

Pathogenic

Condition: not provided
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA344593909

rs_778372285

3 SubmittersRCV001383404 RCV001810505

NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)

SNV
Germline

Chr10:104034060

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

No Assertion Criteria Provided

CA378065096

rs_945600680

1 SubmittersRCV001528110

NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)

SNV
Germline

Chr1:209616606

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa

Criteria Provided
Single Submitter

CA344582365

rs_2102403618

1 SubmittersRCV001733642 RCV004798922

NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)

SNV
Germline

Chr1:183243269

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA343663115

rs_2102258267

1 SubmittersRCV001806359

NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)

SNV
Germline

Chr10:104035287

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA378066251

rs_2134567157

1 SubmittersRCV001823566

NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)

SNV
Germline

Chr10:104070524

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA5679391

rs_763578030

1 SubmittersRCV001823665

NM_000228.3(LAMB3):c.628+2T>A

SNV
Germline

Chr1:209633068

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type
Amelogenesis imperfecta type 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344594858

rs_1666753666

3 SubmittersRCV002244290 RCV002247709 RCV003774695

NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)

SNV
Germline

Chr1:183228555

Pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA343689340

rs_200783718

1 SubmittersRCV002250942

NM_000228.3(LAMB3):c.298+5G>C

SNV
Germline

Chr1:209638529

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa gravis of Herlitz

Criteria Provided
Conflicting Classifications

CA1376047

rs_754529975

2 SubmittersRCV002283838 RCV005252147

NM_000228.3(LAMB3):c.3226G>T (p.Glu1076Ter)

SNV
Unknown

Chr1:209617412

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344583512

rs_2464752372

1 SubmittersRCV002309939

NM_000228.3(LAMB3):c.1435G>T (p.Glu479Ter)

SNV
Unknown

Chr1:209627433

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344591057

rs_2464831167

1 SubmittersRCV002308369

NM_000228.3(LAMB3):c.81T>A (p.Tyr27Ter)

SNV
Unknown

Chr1:209650066

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344566307

rs_2464954277

1 SubmittersRCV002309202

NM_000228.3(LAMB3):c.421A>T (p.Lys141Ter)

SNV
Unknown

Chr1:209634590

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344596149

rs_2464880318

1 SubmittersRCV002309243

NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)

SNV
Unknown

Chr1:209628119

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344591745

rs_2464837989

1 SubmittersRCV002309527

NM_000228.3(LAMB3):c.2166C>A (p.Tyr722Ter)

SNV
Unknown

Chr1:209623697

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344588584

rs_552611500

1 SubmittersRCV002310193

NM_000228.3(LAMB3):c.2327C>A (p.Ser776Ter)

SNV
Unknown

Chr1:209623536

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344588264

rs_748475714

1 SubmittersRCV002310240

NM_000228.3(LAMB3):c.444C>G (p.Tyr148Ter)

SNV
Unknown

Chr1:209634567

Likely pathogenic

Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344596054

rs_200607251

1 SubmittersRCV002310261

NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)

SNV
Germline

Chr1:209627458

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Conflicting Classifications

CA344591114

rs_2464831400

2 SubmittersRCV002997042 RCV003989799

NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)

SNV
Germline

Chr1:209623621

Pathogenic/Likely pathogenic

Condition: not provided
Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Multiple Submitters
No Conflicts

CA344588427

rs_369131781

2 SubmittersRCV003013747 RCV005019560

NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)

SNV
Germline

Chr1:209630667

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

No Assertion Criteria Provided

CA344593548

rs_371462192

1 SubmittersRCV003149118

NM_000494.4(COL17A1):c.464-2A>G

SNV
Germline

Chr10:104070571

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA378079219

rs_2493375635

1 SubmittersRCV003388764

NM_000228.3(LAMB3):c.2701+2T>C

SNV
Germline

Chr1:209622534

Likely pathogenic

Amelogenesis imperfecta type 1A
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344586930

rs_2464785458

2 SubmittersRCV005014839 RCV003682475

NM_000228.3(LAMB3):c.1598-1G>T

SNV
Germline

Chr1:209626027

Likely pathogenic

Junctional epidermolysis bullosa, non-Herlitz type

Criteria Provided
Single Submitter

CA344590037

rs_2464820641