Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)	SNV Germline	Chr3:48566281	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA257933	rs_121912828	4 SubmittersRCV003556045 RCV000018969 RCV005025071
NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter)	SNV Germline	Chr3:48592613	Pathogenic	Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided	CA257937	rs_121912830	1 SubmittersRCV000018973
NM_000094.4(COL7A1):c.4119+1G>T	SNV Germline	Chr3:48584484	Pathogenic	Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided	CA352695653	rs_1575467199	1 SubmittersRCV000018983
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)	SNV Germline	Chr3:48581483	Pathogenic	Nonsyndromic congenital nail disorder 8 Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided	CA128521	rs_121912840	1 SubmittersRCV000022474 RCV000018993
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)	SNV Germline	Chr3:48575428	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions Epidermolysis bullosa dystrophica Duane retraction syndrome	Criteria Provided Conflicting Classifications	CA257946	rs_121912838	7 SubmittersRCV000335209 RCV000018997 RCV000850543 RCV001831585 RCV003883119
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)	SNV Germline	Chr3:48572712	Pathogenic	Condition: not provided Generalized dominant dystrophic epidermolysis bullosa Recessive dystrophic epidermolysis bullosa Nonsyndromic congenital nail disorder 8 Epidermolysis bullosa dystrophica COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128519	rs_121912839	10 SubmittersRCV000439658 RCV000408804 RCV000018998 RCV000022473 RCV001352821 RCV004545732
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)	SNV Germline	Chr3:48575475	Pathogenic	Generalized dominant dystrophic epidermolysis bullosa Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA257950	rs_121912843	2 SubmittersRCV000019000 RCV000760150
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	SNV Germline	Chr3:48575419	Pathogenic	Condition: not provided Generalized dominant dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Generalized dominant dystrophic epidermolysis bullosa Recessive dystrophic epidermolysis bullosa COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257952	rs_121912844	9 SubmittersRCV000413086 RCV000019001 RCV001352761 RCV002243653 RCV003894815
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter)	SNV Germline	Chr3:48581271	Pathogenic	Epidermolysis bullosa pruriginosa, autosomal recessive Condition: not provided Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA127199	rs_121912847	5 SubmittersRCV000019005 RCV000388576 RCV001272359 RCV002276565
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)	SNV Germline	Chr3:48575236	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA257956	rs_121912849	6 SubmittersRCV000019007 RCV000413807 RCV001352769
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)	SNV Germline	Chr3:48567736	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided Epidermolysis bullosa dystrophica 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA257960	rs_121912851	8 SubmittersRCV000019009 RCV001203194 RCV001826479 RCV005025072
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)	SNV Germline	Chr3:48570304	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA257962	rs_121912852	5 SubmittersRCV000019010 RCV000255683 RCV005025073 RCV001831586
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)	SNV Germline	Chr3:48566719	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA257965	rs_121912853	5 SubmittersRCV000019011 RCV001378411 RCV001826480
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	SNV Germline	Chr3:48592915	Pathogenic	Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica 14 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127205	rs_121912854	6 SubmittersRCV000019013 RCV000019014 RCV001352750 RCV000415442 RCV001384443
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	SNV Germline	Chr3:48575218	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica inversa, autosomal recessive 14 conditions Abnormal blistering of the skin Condition: not provided Epidermolysis bullosa pruriginosa Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa COL7A1-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA127208	rs_121912855	12 SubmittersRCV000019015 RCV000414882 RCV000626608 RCV000498291 RCV001199071 RCV001352770 RCV002276566 RCV001251179 RCV003924844 RCV002496411
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	SNV Germline	Chr3:48593538	Pathogenic	Epidermolysis bullosa pruriginosa, autosomal recessive Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa 7 conditions Condition: not provided Skin erosion Abnormality of the skin Nail dystrophy Epidermolysis bullosa dystrophica Anonychia Epidermolysis bullosa pruriginosa COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128526	rs_121912856	16 SubmittersRCV000018978 RCV000018977 RCV000022479 RCV000760149 RCV000763517 RCV000494404 RCV000626605 RCV000779415 RCV000626606 RCV001197324 RCV004751221
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)	SNV Germline	Chr3:48578497	Pathogenic	Dominant dystrophic epidermolysis bullosa with absence of skin Recessive dystrophic epidermolysis bullosa Nonsyndromic congenital nail disorder 8	No Assertion Criteria Provided	CA270740	rs_121912841	2 SubmittersRCV000144373 RCV000225690 RCV000256181
NM_000094.4(COL7A1):c.4980+1G>C	SNV Germline	Chr3:48580881	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Single Submitter	CA273743	rs_730880285	2 SubmittersRCV000157650 RCV001850191
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)	SNV Germline	Chr3:48566303	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Inborn genetic diseases Epidermolysis bullosa dystrophica Condition: not provided Epidermolysis bullosa dystrophica inversa, autosomal recessive COL7A1-related disorder	Criteria Provided Conflicting Classifications	CA277148	rs_142566193	8 SubmittersRCV000193478 RCV000623488 RCV001148693 RCV001358200 RCV001275762 RCV003907713
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)	SNV Germline	Chr3:48584486	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Condition: not provided COL7A1-related disorder	Criteria Provided Conflicting Classifications	CA2380226	rs_140403507	5 SubmittersRCV000490480 RCV001144471 RCV000898865 RCV003947689
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)	SNV Germline	Chr3:48587443	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA2380685	rs_568498471	4 SubmittersRCV000490263 RCV001144588 RCV001853382 RCV002503832
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)	SNV Germline	Chr3:48588918	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Condition: not provided Epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica inversa, autosomal recessive	Criteria Provided Conflicting Classifications	CA2380900	rs_202237834	4 SubmittersRCV000490367 RCV000937223 RCV001146519 RCV001273594
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)	SNV Germline	Chr3:48568819	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica inversa, autosomal recessive COL7A1-related disorder Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA10588366	rs_760891216	5 SubmittersRCV000255334 RCV001275768 RCV004529454 RCV001823128
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp)	SNV Germline	Chr3:48570177	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA10588367	rs_886039328	2 SubmittersRCV000254743 RCV003989510
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)	SNV Germline	Chr3:48591527	Pathogenic	Condition: not provided 7 conditions Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2381174	rs_368007918	6 SubmittersRCV000328456 RCV000763516 RCV001352754 RCV001273339
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)	SNV Germline	Chr3:48593231	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10602899	rs_886041186	7 SubmittersRCV000360923 RCV001352749 RCV001267646 RCV005252846 RCV004751409
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)	SNV Germline	Chr3:48583161	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2380011	rs_756217590	6 SubmittersRCV000331750 RCV001261557 RCV005252847
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)	SNV Germline	Chr3:48565433	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica Condition: not provided Recessive dystrophic epidermolysis bullosa COL7A1-related disorder	Criteria Provided Conflicting Classifications	CA2377977	rs_139014122	6 SubmittersRCV000276890 RCV000963118 RCV005355666 RCV003969996
NM_000094.4(COL7A1):c.266+2T>C	SNV Germline	Chr3:48594366	Pathogenic/Likely pathogenic	Condition: not provided 7 conditions Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2381612	rs_561997536	3 SubmittersRCV002520153 RCV005033880 RCV005407072
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)	SNV Germline	Chr3:48569387	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2378362	rs_201140493	4 SubmittersRCV000282181 RCV001449945 RCV000890440
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)	SNV Germline	Chr3:48576272	Pathogenic	Epidermolysis bullosa dystrophica Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica inversa, autosomal recessive COL7A1-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379318	rs_757415879	7 SubmittersRCV000304634 RCV000816080 RCV002278551 RCV001272351 RCV004529559 RCV005033878
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)	SNV Germline	Chr3:48591685	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2381200	rs_201877942	4 SubmittersRCV000373422 RCV001278983 RCV005365255 RCV002520151
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)	SNV Germline	Chr3:48578354	Pathogenic	Condition: not provided 7 conditions Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA2379468	rs_758886532	5 SubmittersRCV000414006 RCV002488847 RCV002278637 RCV001352700
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	SNV Germline	Chr3:48590721	Pathogenic	Condition: not provided 7 conditions Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica COL7A1-related disorder Generalized dominant dystrophic epidermolysis bullosa See cases Epidermolysis bullosa pruriginosa	Criteria Provided Multiple Submitters No Conflicts	CA2381135	rs_144023803	10 SubmittersRCV000413975 RCV000763514 RCV000578166 RCV000779414 RCV004751509 RCV003318572 RCV004584380 RCV004816640
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)	SNV Germline	Chr3:48580586	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica inversa, autosomal recessive Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa COL7A1-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379712	rs_760063197	10 SubmittersRCV000414125 RCV001272357 RCV001352848 RCV002278636 RCV003422380 RCV005033931
NM_000094.4(COL7A1):c.682+1G>A	SNV Germline	Chr3:48593101	Pathogenic/Likely pathogenic	Condition: not provided Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA16042478	rs_775288140	5 SubmittersRCV000413063 RCV001273346 RCV000503323
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter)	SNV Germline	Chr3:48572912	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2378841	rs_772381373	6 SubmittersRCV000413778 RCV001352820 RCV002278638 RCV005033934
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)	SNV Germline	Chr3:48576771	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa COL7A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA16042520	rs_1057517724	4 SubmittersRCV000412944 RCV000761300 RCV003972554 RCV005238962
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	SNV Germline	Chr3:48570639	Pathogenic	Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Epidermolysis bullosa pruriginosa, autosomal recessive Condition: not provided 7 conditions Epidermolysis bullosa dystrophica inversa, autosomal recessive COL7A1-related disorder Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2378563	rs_201728948	7 SubmittersRCV000018980 RCV000018981 RCV000414113 RCV000763112 RCV001275769 RCV004751510 RCV005355702
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	SNV Germline	Chr3:48590258	Pathogenic	Toe syndactyly Short stature Palmoplantar blistering Finger syndactyly Anonychia Condition: not provided Abnormal blistering of the skin Recessive dystrophic epidermolysis bullosa Abnormality of the skin Nail dystrophy Skin erosion 7 conditions Epidermolysis bullosa pruriginosa COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2381040	rs_780261665	9 SubmittersRCV000415386 RCV000626603 RCV000485192 RCV000626602 RCV001273337 RCV000626601 RCV002481285 RCV001198316 RCV004751512
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)	SNV Germline	Chr3:48568137	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa	Criteria Provided Multiple Submitters No Conflicts	CA16617979	rs_1064793916	6 SubmittersRCV000480187 RCV001833608 RCV002250637 RCV002463680
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)	SNV Germline	Chr3:48566686	Likely pathogenic	Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Single Submitter	CA16621527	rs_1064797081	2 SubmittersRCV000487447 RCV002506182
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:48595159	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16621531	rs_1064797078	3 SubmittersRCV000487444 RCV000579087
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)	SNV Germline	Chr3:48576249	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Condition: not provided 7 conditions Epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2379312	rs_200972872	9 SubmittersRCV000018979 RCV000497540 RCV000763114 RCV001148931 RCV001272350 RCV002279273 RCV004535558
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr3:48575673	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352664932	rs_1368134215	5 SubmittersRCV000523202 RCV001352708 RCV005252941
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp)	SNV Germline	Chr3:48575736	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2379257	rs_747081862	4 SubmittersRCV000519494 RCV002279308
NM_000094.4(COL7A1):c.4011+1G>A	SNV Germline	Chr3:48584909	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352697031	rs_1553862581	3 SubmittersRCV000519849 RCV002279312
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)	SNV Germline	Chr3:48592775	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA73993044	rs_770216458	4 SubmittersRCV000519419 RCV002279310
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)	SNV Germline	Chr3:48593554	Pathogenic	Condition: not provided 7 conditions Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352747807	rs_1203706188	5 SubmittersRCV000523190 RCV000763518 RCV001829484 RCV002279311
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)	SNV Germline	Chr3:48586983	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA352708242	rs_1553612617	4 SubmittersRCV000578178 RCV003403367 RCV005034148
NM_000094.4(COL7A1):c.5532+1G>A	SNV Germline	Chr3:48578320	Pathogenic/Likely pathogenic	Epidermolysis bullosa pruriginosa, autosomal recessive Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica inversa, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2379463	rs_767182886	5 SubmittersRCV000018990 RCV000579227 RCV000626021 RCV001272354
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)	SNV Germline	Chr3:48584754	Pathogenic	Condition: not provided 7 conditions Epidermolysis bullosa dystrophica inversa, autosomal recessive Generalized dominant dystrophic epidermolysis bullosa Recessive dystrophic epidermolysis bullosa Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2380264	rs_761234904	6 SubmittersRCV000598770 RCV000763513 RCV001272361 RCV002245038 RCV002279385
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)	SNV Germline	Chr3:48575497	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA352663824	rs_1055680335	11 SubmittersRCV000625955 RCV001216539 RCV000789046 RCV005034200
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)	SNV Germline	Chr3:48595076	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Condition: not provided	Criteria Provided Conflicting Classifications	CA433547019	rs_1559444716	2 SubmittersRCV000721910 RCV001352696 RCV003698813
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)	SNV Germline	Chr3:48581265	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379800	rs_751535193	6 SubmittersRCV000760309 RCV001253741 RCV001825505 RCV002507332
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	SNV Germline	Chr3:48574262	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided Abnormality of the skin Epidermolysis bullosa dystrophica See cases COL7A1-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379009	rs_767539005	11 SubmittersRCV000761228 RCV001380774 RCV001814231 RCV001352773 RCV003156133 RCV003965570 RCV005036088
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)	SNV Germline	Chr3:48576286	Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352666204	rs_1560219171	2 SubmittersRCV000761301 RCV005092193
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)	SNV Unknown	Chr3:48587423	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352713730	rs_1559423385	1 SubmittersRCV000761529
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)	SNV Germline	Chr3:48579271	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA73978664	rs_1032335328	6 SubmittersRCV000778703 RCV002051892 RCV001856162 RCV005036099
NM_000094.4(COL7A1):c.7068+5G>A	SNV Germline	Chr3:48571996	Conflicting classifications of pathogenicity	7 conditions Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided COL7A1-related disorder	Criteria Provided Conflicting Classifications	CA2378700	rs_779875751	8 SubmittersRCV000850542 RCV001148798 RCV002279565 RCV003558610 RCV004751755
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)	SNV Germline	Chr3:48586192	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa dystrophica Generalized dominant dystrophic epidermolysis bullosa Amelogenesis imperfecta type 1 COL7A1-related disorder Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2380466	rs_149011081	7 SubmittersRCV000886163 RCV001149171 RCV001272618 RCV003153879 RCV004751784 RCV005359640
NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp)	SNV Germline	Chr3:48573318	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2378901	rs_546653276	3 SubmittersRCV000928320 RCV001275982 RCV004771488
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)	SNV Germline	Chr3:48586985	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica	Criteria Provided Conflicting Classifications	CA2380587	rs_529120446	4 SubmittersRCV000975561 RCV001580557 RCV001827067
NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp)	SNV Unknown	Chr3:48567136	Likely pathogenic	Recessive dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa	Criteria Provided Single Submitter	CA352640428	rs_1575418015	1 SubmittersRCV000991328
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)	SNV Germline	Chr3:48566730	Likely pathogenic	Epidermolysis bullosa pruriginosa Recessive dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica inversa, autosomal recessive Epidermolysis bullosa pruriginosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2378111	rs_377182638	5 SubmittersRCV000993563 RCV001278912 RCV004698349 RCV003736953 RCV005029550
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)	SNV Germline	Chr3:48578481	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica inversa, autosomal recessive Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2379492	rs_143037856	4 SubmittersRCV001279725 RCV000998070 RCV005359734
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)	SNV Germline	Chr3:48584763	Pathogenic	Condition: not provided Transient bullous dermolysis of the newborn 7 conditions Pretibial dystrophic epidermolysis bullosa Transient bullous dermolysis of the newborn Nonsyndromic congenital nail disorder 8 Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA2380267	rs_761927109	6 SubmittersRCV001072052 RCV002249671 RCV002482148 RCV005359851 RCV001833679
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)	SNV Germline	Chr3:48580311	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica not specified Recessive dystrophic epidermolysis bullosa Condition: not provided COL7A1-related disorder 7 conditions	Criteria Provided Conflicting Classifications	CA2379684	rs_2229820	9 SubmittersRCV001144357 RCV003490086 RCV005359876 RCV001796373 RCV003405352 RCV002480534
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)	SNV Germline	Chr3:48593192	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Condition: not provided	Criteria Provided Conflicting Classifications	CA2381506	rs_147177277	3 SubmittersRCV005359879 RCV001150875 RCV001489649
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)	SNV Germline	Chr3:48595099	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica inversa, autosomal recessive	Criteria Provided Conflicting Classifications	CA2381672	rs_377112899	4 SubmittersRCV002557094 RCV003992451 RCV001144775 RCV001280171
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)	SNV Germline	Chr3:48579635	Pathogenic	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2379619	rs_746053763	3 SubmittersRCV001204717 RCV001352852 RCV003148946
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)	SNV Germline	Chr3:48584742	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2380261	rs_121912833	3 SubmittersRCV001206925 RCV002225127
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)	SNV Germline	Chr3:48574262	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA433537441	rs_767539005	1 SubmittersRCV001786459
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)	SNV Germline	Chr3:48568525	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided	CA352642247	rs_2043715843	1 SubmittersRCV001261558
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)	SNV Germline	Chr3:48586232	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2380477	rs_546776797	3 SubmittersRCV001277643 RCV001823191 RCV002542876
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)	SNV Germline	Chr3:48590733	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica inversa, autosomal recessive Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2381138	rs_200762860	3 SubmittersRCV001278978 RCV002541698 RCV005367807
NM_000094.4(COL7A1):c.7272+1G>A	SNV Germline	Chr3:48570860	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352649746	rs_2107648492	1 SubmittersRCV001594414
NM_000094.4(COL7A1):c.8109+1G>A	SNV Germline	Chr3:48567127	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA73972921	rs_1050797523	2 SubmittersRCV001859240 RCV001580585
NM_000094.4(COL7A1):c.8304+1G>A	SNV Germline	Chr3:48566659	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa 7 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352637213	rs_759579761	4 SubmittersRCV001352717 RCV003135992 RCV002499656 RCV005094430
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)	SNV Germline	Chr3:48585610	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Condition: not provided not specified 7 conditions	Criteria Provided Conflicting Classifications	CA2380361	rs_569641113	5 SubmittersRCV001334216 RCV001780255 RCV005419090 RCV005038088
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)	SNV Germline	Chr3:48590228	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2381032	rs_751176402	2 SubmittersRCV001333206 RCV002546617
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)	SNV Germline	Chr3:48568804	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2378341	rs_762084565	4 SubmittersRCV001352867 RCV002276707 RCV003738051 RCV005023081
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)	SNV Germline	Chr3:48570145	Pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa COL7A1-related disorder Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2378489	rs_765529435	6 SubmittersRCV001352863 RCV002276706 RCV004528479 RCV003558822 RCV005023080
NM_000094.4(COL7A1):c.7380+2T>C	SNV Germline	Chr3:48570463	Pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352646742	rs_1249145909	4 SubmittersRCV001352862 RCV002276705 RCV003558821
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)	SNV Germline	Chr3:48570863	Pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA352649756	rs_1189942401	4 SubmittersRCV001352858 RCV004579573 RCV003718410 RCV005038118
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)	SNV Germline	Chr3:48570884	Pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA73975244	rs_983476178	4 SubmittersRCV001352827 RCV002276704 RCV003558819
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)	SNV Germline	Chr3:48572018	Pathogenic	Epidermolysis bullosa dystrophica Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA500032	rs_1800013	3 SubmittersRCV001352824 RCV001871903 RCV002276703
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)	SNV Germline	Chr3:48575373	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352662972	rs_1410793870	3 SubmittersRCV001352764 RCV002547567 RCV003339611
NM_000094.4(COL7A1):c.5532+1G>T	SNV Germline	Chr3:48578320	Pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352671605	rs_767182886	2 SubmittersRCV001352701 RCV002276700
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	SNV Germline	Chr3:48584769	Pathogenic/Likely pathogenic	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa 7 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352696856	rs_1156352791	5 SubmittersRCV001352811 RCV001823199 RCV002499708 RCV002548488
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)	SNV Germline	Chr3:48584049	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2380162	rs_146659822	3 SubmittersRCV001361010 RCV001826004 RCV005361564
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)	SNV Germline	Chr3:48593356	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352746226	rs_1245411910	3 SubmittersRCV001871963 RCV001823202
NM_000094.4(COL7A1):c.682+5G>A	SNV Germline	Chr3:48593097	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2381486	rs_767647070	2 SubmittersRCV001732147
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)	SNV Germline	Chr3:48566545	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA352636944	rs_1333259313	4 SubmittersRCV001380605 RCV002276720 RCV005614533
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)	SNV Germline	Chr3:48567582	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2378194	rs_370744140	4 SubmittersRCV001389450 RCV002051943
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)	SNV Germline	Chr3:48573884	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352657548	rs_1461012195	2 SubmittersRCV001380772 RCV003328102
NM_000094.4(COL7A1):c.4783-1G>A	SNV Germline	Chr3:48581484	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica	Criteria Provided Multiple Submitters No Conflicts	CA2379837	rs_371908708	3 SubmittersRCV001386007 RCV002276722 RCV001826167
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)	SNV Germline	Chr3:48590528	Pathogenic/Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa COL7A1-related disorder 7 conditions Transient bullous dermolysis of the newborn	Criteria Provided Multiple Submitters No Conflicts	CA2381093	rs_759634066	7 SubmittersRCV001388797 RCV002276723 RCV003898367 RCV005038204 RCV005232307
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp)	SNV Germline	Chr3:48566995	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2378140	rs_369591910	4 SubmittersRCV001528927 RCV005208166
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln)	SNV Germline	Chr3:48564917	Conflicting classifications of pathogenicity	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2377896	rs_147911102	3 SubmittersRCV001535766 RCV002568914 RCV005361652
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu)	SNV Germline	Chr3:48572932	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA352654880	rs_2107659875	3 SubmittersRCV001547354 RCV004564016
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser)	SNV Unknown	Chr3:48584061	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352694783	rs_2107731142	1 SubmittersRCV001730025
NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp)	SNV Germline	Chr3:48573037	Likely pathogenic	Generalized dominant dystrophic epidermolysis bullosa COL7A1-related disorder Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352655108	rs_2107660525	2 SubmittersRCV001732867 RCV003910990 RCV004798918
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)	SNV Germline	Chr3:48583164	Conflicting classifications of pathogenicity	7 conditions Condition: not provided Inborn genetic diseases Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2380013	rs_570707807	5 SubmittersRCV002478004 RCV002544207 RCV003247021 RCV003388612
NM_000094.4(COL7A1):c.2171-2A>G	SNV Germline	Chr3:48589472	Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352725032	rs_1158674229	3 SubmittersRCV001780852 RCV002466270
NM_000094.4(COL7A1):c.5124+2T>C	SNV Germline	Chr3:48580029	Likely pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352678316	rs_2107702819	2 SubmittersRCV001780854 RCV002466271
NM_000094.4(COL7A1):c.7795-2A>G	SNV Germline	Chr3:48568172	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352642105	rs_2107637442	1 SubmittersRCV001806296
NM_000094.4(COL7A1):c.8047-2A>C	SNV Germline	Chr3:48567192	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352640825	rs_2107633400	1 SubmittersRCV001808164
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)	SNV Germline	Chr3:48571150	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA352651222	rs_1233025207	3 SubmittersRCV001808307 RCV003679075 RCV003331210
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)	SNV Germline	Chr3:48580616	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352679815	rs_2107706875	1 SubmittersRCV001808928
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)	SNV Germline	Chr3:48565160	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352634093	rs_372166543	3 SubmittersRCV001823507 RCV003560868
NM_000094.4(COL7A1):c.3276+1G>A	SNV Germline	Chr3:48586971	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352708085	rs_2045311247	1 SubmittersRCV001823535
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)	SNV Germline	Chr3:48566718	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA352638956	rs_2107631988	4 SubmittersRCV001823611 RCV003660907 RCV003892879
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)	SNV Germline	Chr3:48569440	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided COL7A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA352643993	rs_2107641787	3 SubmittersRCV001823653 RCV001869819 RCV003911042
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala)	SNV Germline	Chr3:48566914	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA352639340	rs_745691610	3 SubmittersRCV001896551 RCV002276924 RCV005023386
NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=)	SNV Germline	Chr3:48584910	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2380288	rs_201597369	2 SubmittersRCV001998372 RCV002276967
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu)	SNV Germline	Chr3:48580047	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379668	rs_770304825	4 SubmittersRCV001898982 RCV004587247 RCV005038476
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter)	SNV Germline	Chr3:48591951	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2381254	rs_375539799	2 SubmittersRCV001903609 RCV004699546
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)	SNV Germline	Chr3:48593108	Pathogenic	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2381490	rs_753819164	2 SubmittersRCV001956468 RCV002276957
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)	SNV Germline	Chr3:48577000	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA2379435	rs_146234310	5 SubmittersRCV002052063 RCV002508336 RCV005032144
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)	SNV Germline	Chr3:48576708	Likely pathogenic	Pretibial dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352667779	rs_2107682264	1 SubmittersRCV005252122
NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)	SNV Germline	Chr3:48572513	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352652902	rs_2107657132	1 SubmittersRCV002277046
NM_000094.4(COL7A1):c.7104+3A>T	SNV Germline	Chr3:48571240	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA73975388	rs_749077987	3 SubmittersRCV002277047 RCV003738158 RCV005032191
NM_000094.4(COL7A1):c.1507+4A>T	SNV Germline	Chr3:48591669	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA2580070039	rs_2107788093	1 SubmittersRCV002277051
NM_000094.4(COL7A1):c.2711-1G>C	SNV Germline	Chr3:48587940	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352716743	rs_2107760970	1 SubmittersRCV002277052
NM_000094.4(COL7A1):c.4342-2A>G	SNV Germline	Chr3:48583617	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352693056	rs_2107727475	1 SubmittersRCV002277055
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)	SNV Germline	Chr3:48575446	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352663399	rs_2107674627	1 SubmittersRCV002277062
NM_000094.4(COL7A1):c.6573+5G>A	SNV Germline	Chr3:48573685	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA2580069949	rs_2107663986	1 SubmittersRCV002277063
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)	SNV Germline	Chr3:48573320	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2378902	rs_781720055	4 SubmittersRCV002277064 RCV003089139
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)	SNV Germline	Chr3:48573038	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352655114	rs_2107660536	1 SubmittersRCV002277065
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)	SNV Germline	Chr3:48572133	Pathogenic/Likely pathogenic	Transient bullous dermolysis of the newborn Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA433535133	rs_1362309822	3 SubmittersRCV002246697 RCV002277067 RCV003560874
NM_000094.4(COL7A1):c.7521+2T>C	SNV Germline	Chr3:48569878	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352645136	rs_2107643652	1 SubmittersRCV002277068
NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)	SNV Germline	Chr3:48566933	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352639530	rs_2107632563	1 SubmittersRCV002277072
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)	SNV Germline	Chr3:48564872	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA352633036	rs_1242922135	3 SubmittersRCV002277074 RCV003728046 RCV005433182
NM_000094.4(COL7A1):c.977-1G>C	SNV Germline	Chr3:48592468	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352739275	rs_2107793500	1 SubmittersRCV002277075
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	SNV Germline	Chr3:48573191	Pathogenic	Recessive dystrophic epidermolysis bullosa COL7A1-related disorder Condition: not provided Pretibial dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352655420	rs_2107661505	4 SubmittersRCV002277088 RCV003896072 RCV003101245 RCV003314032
NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu)	SNV Germline	Chr3:48580615	Likely pathogenic	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352679773	rs_2107706848	1 SubmittersRCV002244182
NM_000094.4(COL7A1):c.5053-2A>G	SNV Germline	Chr3:48580346	Likely pathogenic	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA2379690	rs_765480571	1 SubmittersRCV002244197
NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg)	SNV Germline	Chr3:48572933	Pathogenic/Likely pathogenic	Recessive dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352654887	rs_2107659888	2 SubmittersRCV002244235 RCV005095799
NM_000094.4(COL7A1):c.4635+1G>A	SNV Germline	Chr3:48582322	Pathogenic/Likely pathogenic	Transient bullous dermolysis of the newborn Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA2379924	rs_774890570	2 SubmittersRCV002249828 RCV004785543
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)	SNV Germline	Chr3:48573033	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2378857	rs_575575729	4 SubmittersRCV002265364 RCV003101487 RCV003388627
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)	SNV Germline	Chr3:48567162	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352640627	rs_2043644681	1 SubmittersRCV002283712
NM_000094.4(COL7A1):c.4172C>T (p.Pro1391Leu)	SNV Germline	Chr3:48584323	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2380182	rs_767036698	2 SubmittersRCV003061080 RCV005356260
NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)	SNV Germline	Chr3:48575893	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2379290	rs_527416146	2 SubmittersRCV002616545 RCV003388634
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)	SNV Germline	Chr3:48574496	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA2379045	rs_370428918	3 SubmittersRCV002648042 RCV003992715
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)	SNV Germline	Chr3:48575735	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa 7 conditions	Criteria Provided Conflicting Classifications	CA352665478	rs_1340588200	3 SubmittersRCV002651686 RCV003388635 RCV005034823
NM_000094.4(COL7A1):c.1720C>G (p.Arg574Gly)	SNV Germline	Chr3:48590733	Conflicting classifications of pathogenicity	Condition: not provided Recessive dystrophic epidermolysis bullosa not specified	Criteria Provided Conflicting Classifications	CA2381139	rs_200762860	3 SubmittersRCV003112079 RCV004763592 RCV004701003
NM_000094.4(COL7A1):c.8528-45G>A	SNV Germline	Chr3:48565246	Conflicting classifications of pathogenicity	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2377953	rs_781077978	2 SubmittersRCV004796786 RCV003221564
NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)	SNV Germline	Chr3:48569437	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352643977	rs_2530844081	1 SubmittersRCV003320014
NM_000094.4(COL7A1):c.3595C>T (p.Gln1199Ter)	SNV Germline	Chr3:48586202	Likely pathogenic	Recessive dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa Transient bullous dermolysis of the newborn	Criteria Provided Single Submitter	CA352703630	rs_1276620073	1 SubmittersRCV003323340
NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)	SNV Germline	Chr3:48566719	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided	CA2378104	rs_121912853	1 SubmittersRCV003328130
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)	SNV Germline	Chr3:48592828	Pathogenic	Recessive dystrophic epidermolysis bullosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352741602	rs_2531335997	2 SubmittersRCV003334418 RCV003738433
NM_000094.4(COL7A1):c.8226+1G>C	SNV Germline	Chr3:48566906	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352639223	rs_2530817264	1 SubmittersRCV003337846
NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)	SNV Germline	Chr3:48571278	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352651615	rs_2530879298	1 SubmittersRCV003338089
NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)	SNV Germline	Chr3:48575496	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352663810	rs_1002845719	1 SubmittersRCV003388736
NM_000094.4(COL7A1):c.6652-2A>G	SNV Germline	Chr3:48573238	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352655851	rs_2044058094	1 SubmittersRCV003388751
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala)	SNV Germline	Chr3:48571250	Pathogenic/Likely pathogenic	Condition: not provided 7 conditions Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352651445	rs_2043899331	3 SubmittersRCV003555063 RCV005036881 RCV004701730
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)	SNV Germline	Chr3:48568819	Likely pathogenic	Condition: not provided 7 conditions Recessive dystrophic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA352643069	rs_760891216	3 SubmittersRCV003669039 RCV005030164 RCV004579622
NM_000094.4(COL7A1):c.4782+1G>A	SNV Germline	Chr3:48581572	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352684475	rs_2531107840	1 SubmittersRCV003985994
NM_000094.4(COL7A1):c.4466G>A (p.Gly1489Asp)	SNV Germline	Chr3:48583143	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter	CA352691145	rs_1416352336	1 SubmittersRCV003990517
NM_000094.4(COL7A1):c.7025G>A (p.Gly2342Asp)	SNV Unknown	Chr3:48572044	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter		rs_2530892715	1 SubmittersRCV004566635
NM_000094.4(COL7A1):c.7727T>A (p.Leu2576Ter)	SNV Germline	Chr3:48568815	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter		rs_2530838087	1 SubmittersRCV004577304
NM_000094.4(COL7A1):c.4990G>A (p.Gly1664Arg)	SNV Germline	Chr3:48580643	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	No Assertion Criteria Provided		rs_1560231816	1 SubmittersRCV004577413
NM_000094.4(COL7A1):c.5959C>T (p.Gln1987Ter)	SNV Germline	Chr3:48575646	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter		rs_2530978135	1 SubmittersRCV004578010
NM_000094.4(COL7A1):c.2858-1G>A	SNV Germline	Chr3:48587555	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter		rs_2531234929	1 SubmittersRCV004579644
NM_000094.4(COL7A1):c.7414G>A (p.Gly2472Ser)	SNV Germline	Chr3:48570301	Conflicting classifications of pathogenicity	not specified Recessive dystrophic epidermolysis bullosa	Criteria Provided Conflicting Classifications			2 SubmittersRCV004701118 RCV004787154
NM_000094.4(COL7A1):c.4198-1G>A	SNV Germline	Chr3:48584062	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV004771720
NM_000094.4(COL7A1):c.6715G>A (p.Gly2239Ser)	SNV Germline	Chr3:48573056	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV004788615
NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)	SNV Germline	Chr3:48566533	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV004800131
NM_000094.4(COL7A1):c.3977G>T (p.Gly1326Val)	SNV Germline	Chr3:48584944	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV004820993
NM_000094.4(COL7A1):c.7931G>A (p.Gly2644Glu)	SNV Germline	Chr3:48567762	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV005087723
NM_000094.4(COL7A1):c.6574-2A>G	SNV Germline	Chr3:48573559	Likely pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV005088376
NM_000094.4(COL7A1):c.4811G>A (p.Gly1604Glu)	SNV Germline	Chr3:48581455	Pathogenic	Recessive dystrophic epidermolysis bullosa	Criteria Provided Single Submitter			1 SubmittersRCV005237033

NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)

SNV
Germline

Chr3:48566281

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA257933

rs_121912828

4 SubmittersRCV003556045 RCV000018969 RCV005025071

NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter)

SNV
Germline

Chr3:48592613

Pathogenic

Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

CA257937

rs_121912830

1 SubmittersRCV000018973

NM_000094.4(COL7A1):c.4119+1G>T

SNV
Germline

Chr3:48584484

Pathogenic

Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

CA352695653

rs_1575467199

1 SubmittersRCV000018983

NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)

SNV
Germline

Chr3:48581483

Pathogenic

Nonsyndromic congenital nail disorder 8
Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

CA128521

rs_121912840

1 SubmittersRCV000022474 RCV000018993

NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)

SNV
Germline

Chr3:48575428

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions
Epidermolysis bullosa dystrophica
Duane retraction syndrome

Criteria Provided
Conflicting Classifications

CA257946

rs_121912838

7 SubmittersRCV000335209 RCV000018997 RCV000850543 RCV001831585 RCV003883119

NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)

SNV
Germline

Chr3:48572712

Pathogenic

Condition: not provided
Generalized dominant dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa
Nonsyndromic congenital nail disorder 8
Epidermolysis bullosa dystrophica
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128519

rs_121912839

10 SubmittersRCV000439658 RCV000408804 RCV000018998 RCV000022473 RCV001352821 RCV004545732

NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)

SNV
Germline

Chr3:48575475

Pathogenic

Generalized dominant dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA257950

rs_121912843

2 SubmittersRCV000019000 RCV000760150

NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)

SNV
Germline

Chr3:48575419

Pathogenic

Condition: not provided
Generalized dominant dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Generalized dominant dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257952

rs_121912844

9 SubmittersRCV000413086 RCV000019001 RCV001352761 RCV002243653 RCV003894815

NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter)

SNV
Germline

Chr3:48581271

Pathogenic

Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA127199

rs_121912847

5 SubmittersRCV000019005 RCV000388576 RCV001272359 RCV002276565

NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)

SNV
Germline

Chr3:48575236

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA257956

rs_121912849

6 SubmittersRCV000019007 RCV000413807 RCV001352769

NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)

SNV
Germline

Chr3:48567736

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
Epidermolysis bullosa dystrophica
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA257960

rs_121912851

8 SubmittersRCV000019009 RCV001203194 RCV001826479 RCV005025072

NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)

SNV
Germline

Chr3:48570304

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA257962

rs_121912852

5 SubmittersRCV000019010 RCV000255683 RCV005025073 RCV001831586

NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)

SNV
Germline

Chr3:48566719

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA257965

rs_121912853

5 SubmittersRCV000019011 RCV001378411 RCV001826480

NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr3:48592915

Pathogenic

Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
14 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127205

rs_121912854

6 SubmittersRCV000019013 RCV000019014 RCV001352750 RCV000415442 RCV001384443

NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)

SNV
Germline

Chr3:48575218

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica inversa, autosomal recessive
14 conditions
Abnormal blistering of the skin
Condition: not provided
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
COL7A1-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA127208

rs_121912855

12 SubmittersRCV000019015 RCV000414882 RCV000626608 RCV000498291 RCV001199071 RCV001352770 RCV002276566 RCV001251179 RCV003924844 RCV002496411

NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)

SNV
Germline

Chr3:48593538

Pathogenic

Epidermolysis bullosa pruriginosa, autosomal recessive
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
7 conditions
Condition: not provided
Skin erosion
Abnormality of the skin
Nail dystrophy
Epidermolysis bullosa dystrophica
Anonychia
Epidermolysis bullosa pruriginosa
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128526

rs_121912856

16 SubmittersRCV000018978 RCV000018977 RCV000022479 RCV000760149 RCV000763517 RCV000494404 RCV000626605 RCV000779415 RCV000626606 RCV001197324 RCV004751221

NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)

SNV
Germline

Chr3:48578497

Pathogenic

Dominant dystrophic epidermolysis bullosa with absence of skin
Recessive dystrophic epidermolysis bullosa
Nonsyndromic congenital nail disorder 8

No Assertion Criteria Provided

CA270740

rs_121912841

2 SubmittersRCV000144373 RCV000225690 RCV000256181

NM_000094.4(COL7A1):c.4980+1G>C

SNV
Germline

Chr3:48580881

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Single Submitter

CA273743

rs_730880285

2 SubmittersRCV000157650 RCV001850191

NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)

SNV
Germline

Chr3:48566303

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Inborn genetic diseases
Epidermolysis bullosa dystrophica
Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
COL7A1-related disorder

Criteria Provided
Conflicting Classifications

CA277148

rs_142566193

8 SubmittersRCV000193478 RCV000623488 RCV001148693 RCV001358200 RCV001275762 RCV003907713

NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)

SNV
Germline

Chr3:48584486

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Condition: not provided
COL7A1-related disorder

Criteria Provided
Conflicting Classifications

CA2380226

rs_140403507

5 SubmittersRCV000490480 RCV001144471 RCV000898865 RCV003947689

NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)

SNV
Germline

Chr3:48587443

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA2380685

rs_568498471

4 SubmittersRCV000490263 RCV001144588 RCV001853382 RCV002503832

NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)

SNV
Germline

Chr3:48588918

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
Condition: not provided
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica inversa, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2380900

rs_202237834

4 SubmittersRCV000490367 RCV000937223 RCV001146519 RCV001273594

NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)

SNV
Germline

Chr3:48568819

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10588366

rs_760891216

5 SubmittersRCV000255334 RCV001275768 RCV004529454 RCV001823128

NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp)

SNV
Germline

Chr3:48570177

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10588367

rs_886039328

2 SubmittersRCV000254743 RCV003989510

NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)

SNV
Germline

Chr3:48591527

Pathogenic

Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2381174

rs_368007918

6 SubmittersRCV000328456 RCV000763516 RCV001352754 RCV001273339

NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)

SNV
Germline

Chr3:48593231

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10602899

rs_886041186

7 SubmittersRCV000360923 RCV001352749 RCV001267646 RCV005252846 RCV004751409

NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)

SNV
Germline

Chr3:48583161

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2380011

rs_756217590

6 SubmittersRCV000331750 RCV001261557 RCV005252847

NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)

SNV
Germline

Chr3:48565433

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica
Condition: not provided
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder

Criteria Provided
Conflicting Classifications

CA2377977

rs_139014122

6 SubmittersRCV000276890 RCV000963118 RCV005355666 RCV003969996

NM_000094.4(COL7A1):c.266+2T>C

SNV
Germline

Chr3:48594366

Pathogenic/Likely pathogenic

Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2381612

rs_561997536

3 SubmittersRCV002520153 RCV005033880 RCV005407072

NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)

SNV
Germline

Chr3:48569387

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2378362

rs_201140493

4 SubmittersRCV000282181 RCV001449945 RCV000890440

NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)

SNV
Germline

Chr3:48576272

Pathogenic

Epidermolysis bullosa dystrophica
Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa, autosomal recessive
COL7A1-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379318

rs_757415879

7 SubmittersRCV000304634 RCV000816080 RCV002278551 RCV001272351 RCV004529559 RCV005033878

NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)

SNV
Germline

Chr3:48591685

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2381200

rs_201877942

4 SubmittersRCV000373422 RCV001278983 RCV005365255 RCV002520151

NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)

SNV
Germline

Chr3:48578354

Pathogenic

Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA2379468

rs_758886532

5 SubmittersRCV000414006 RCV002488847 RCV002278637 RCV001352700

NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)

SNV
Germline

Chr3:48590721

Pathogenic

Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
COL7A1-related disorder
Generalized dominant dystrophic epidermolysis bullosa
See cases
Epidermolysis bullosa pruriginosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2381135

rs_144023803

10 SubmittersRCV000413975 RCV000763514 RCV000578166 RCV000779414 RCV004751509 RCV003318572 RCV004584380 RCV004816640

NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)

SNV
Germline

Chr3:48580586

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379712

rs_760063197

10 SubmittersRCV000414125 RCV001272357 RCV001352848 RCV002278636 RCV003422380 RCV005033931

NM_000094.4(COL7A1):c.682+1G>A

SNV
Germline

Chr3:48593101

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16042478

rs_775288140

5 SubmittersRCV000413063 RCV001273346 RCV000503323

NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter)

SNV
Germline

Chr3:48572912

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2378841

rs_772381373

6 SubmittersRCV000413778 RCV001352820 RCV002278638 RCV005033934

NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)

SNV
Germline

Chr3:48576771

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA16042520

rs_1057517724

4 SubmittersRCV000412944 RCV000761300 RCV003972554 RCV005238962

NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)

SNV
Germline

Chr3:48570639

Pathogenic

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica inversa, autosomal recessive
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2378563

rs_201728948

7 SubmittersRCV000018980 RCV000018981 RCV000414113 RCV000763112 RCV001275769 RCV004751510 RCV005355702

NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)

SNV
Germline

Chr3:48590258

Pathogenic

Toe syndactyly
Short stature
Palmoplantar blistering
Finger syndactyly
Anonychia
Condition: not provided
Abnormal blistering of the skin
Recessive dystrophic epidermolysis bullosa
Abnormality of the skin
Nail dystrophy
Skin erosion
7 conditions
Epidermolysis bullosa pruriginosa
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2381040

rs_780261665

9 SubmittersRCV000415386 RCV000626603 RCV000485192 RCV000626602 RCV001273337 RCV000626601 RCV002481285 RCV001198316 RCV004751512

NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)

SNV
Germline

Chr3:48568137

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16617979

rs_1064793916

6 SubmittersRCV000480187 RCV001833608 RCV002250637 RCV002463680

NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)

SNV
Germline

Chr3:48566686

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Single Submitter

CA16621527

rs_1064797081

2 SubmittersRCV000487447 RCV002506182

NM_000094.4(COL7A1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:48595159

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16621531

rs_1064797078

3 SubmittersRCV000487444 RCV000579087

NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)

SNV
Germline

Chr3:48576249

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2379312

rs_200972872

9 SubmittersRCV000018979 RCV000497540 RCV000763114 RCV001148931 RCV001272350 RCV002279273 RCV004535558

NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr3:48575673

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352664932

rs_1368134215

5 SubmittersRCV000523202 RCV001352708 RCV005252941

NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp)

SNV
Germline

Chr3:48575736

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2379257

rs_747081862

4 SubmittersRCV000519494 RCV002279308

NM_000094.4(COL7A1):c.4011+1G>A

SNV
Germline

Chr3:48584909

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352697031

rs_1553862581

3 SubmittersRCV000519849 RCV002279312

NM_000094.4(COL7A1):c.846G>A (p.Glu282=)

SNV
Germline

Chr3:48592775

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA73993044

rs_770216458

4 SubmittersRCV000519419 RCV002279310

NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr3:48593554

Pathogenic

Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352747807

rs_1203706188

5 SubmittersRCV000523190 RCV000763518 RCV001829484 RCV002279311

NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr3:48586983

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA352708242

rs_1553612617

4 SubmittersRCV000578178 RCV003403367 RCV005034148

NM_000094.4(COL7A1):c.5532+1G>A

SNV
Germline

Chr3:48578320

Pathogenic/Likely pathogenic

Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2379463

rs_767182886

5 SubmittersRCV000018990 RCV000579227 RCV000626021 RCV001272354

NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)

SNV
Germline

Chr3:48584754

Pathogenic

Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Generalized dominant dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2380264

rs_761234904

6 SubmittersRCV000598770 RCV000763513 RCV001272361 RCV002245038 RCV002279385

NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)

SNV
Germline

Chr3:48575497

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA352663824

rs_1055680335

11 SubmittersRCV000625955 RCV001216539 RCV000789046 RCV005034200

NM_000094.4(COL7A1):c.84A>G (p.Arg28=)

SNV
Germline

Chr3:48595076

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Condition: not provided

Criteria Provided
Conflicting Classifications

CA433547019

rs_1559444716

2 SubmittersRCV000721910 RCV001352696 RCV003698813

NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)

SNV
Germline

Chr3:48581265

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379800

rs_751535193

6 SubmittersRCV000760309 RCV001253741 RCV001825505 RCV002507332

NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)

SNV
Germline

Chr3:48574262

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
Abnormality of the skin
Epidermolysis bullosa dystrophica
See cases
COL7A1-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379009

rs_767539005

11 SubmittersRCV000761228 RCV001380774 RCV001814231 RCV001352773 RCV003156133 RCV003965570 RCV005036088

NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)

SNV
Germline

Chr3:48576286

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352666204

rs_1560219171

2 SubmittersRCV000761301 RCV005092193

NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)

SNV
Unknown

Chr3:48587423

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352713730

rs_1559423385

1 SubmittersRCV000761529

NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)

SNV
Germline

Chr3:48579271

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA73978664

rs_1032335328

6 SubmittersRCV000778703 RCV002051892 RCV001856162 RCV005036099

NM_000094.4(COL7A1):c.7068+5G>A

SNV
Germline

Chr3:48571996

Conflicting classifications of pathogenicity

7 conditions
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided
COL7A1-related disorder

Criteria Provided
Conflicting Classifications

CA2378700

rs_779875751

8 SubmittersRCV000850542 RCV001148798 RCV002279565 RCV003558610 RCV004751755

NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)

SNV
Germline

Chr3:48586192

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa dystrophica
Generalized dominant dystrophic epidermolysis bullosa
Amelogenesis imperfecta type 1
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2380466

rs_149011081

7 SubmittersRCV000886163 RCV001149171 RCV001272618 RCV003153879 RCV004751784 RCV005359640

NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp)

SNV
Germline

Chr3:48573318

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2378901

rs_546653276

3 SubmittersRCV000928320 RCV001275982 RCV004771488

NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)

SNV
Germline

Chr3:48586985

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica

Criteria Provided
Conflicting Classifications

CA2380587

rs_529120446

4 SubmittersRCV000975561 RCV001580557 RCV001827067

NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp)

SNV
Unknown

Chr3:48567136

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa

Criteria Provided
Single Submitter

CA352640428

rs_1575418015

1 SubmittersRCV000991328

NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)

SNV
Germline

Chr3:48566730

Likely pathogenic

Epidermolysis bullosa pruriginosa
Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Epidermolysis bullosa pruriginosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2378111

rs_377182638

5 SubmittersRCV000993563 RCV001278912 RCV004698349 RCV003736953 RCV005029550

NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)

SNV
Germline

Chr3:48578481

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica inversa, autosomal recessive
Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2379492

rs_143037856

4 SubmittersRCV001279725 RCV000998070 RCV005359734

NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)

SNV
Germline

Chr3:48584763

Pathogenic

Condition: not provided
Transient bullous dermolysis of the newborn
7 conditions
Pretibial dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Nonsyndromic congenital nail disorder 8
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA2380267

rs_761927109

6 SubmittersRCV001072052 RCV002249671 RCV002482148 RCV005359851 RCV001833679

NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)

SNV
Germline

Chr3:48580311

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica
not specified
Recessive dystrophic epidermolysis bullosa
Condition: not provided
COL7A1-related disorder
7 conditions

Criteria Provided
Conflicting Classifications

CA2379684

rs_2229820

9 SubmittersRCV001144357 RCV003490086 RCV005359876 RCV001796373 RCV003405352 RCV002480534

NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)

SNV
Germline

Chr3:48593192

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2381506

rs_147177277

3 SubmittersRCV005359879 RCV001150875 RCV001489649

NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)

SNV
Germline

Chr3:48595099

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica inversa, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2381672

rs_377112899

4 SubmittersRCV002557094 RCV003992451 RCV001144775 RCV001280171

NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)

SNV
Germline

Chr3:48579635

Pathogenic

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2379619

rs_746053763

3 SubmittersRCV001204717 RCV001352852 RCV003148946

NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)

SNV
Germline

Chr3:48584742

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2380261

rs_121912833

3 SubmittersRCV001206925 RCV002225127

NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)

SNV
Germline

Chr3:48574262

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA433537441

rs_767539005

1 SubmittersRCV001786459

NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)

SNV
Germline

Chr3:48568525

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

CA352642247

rs_2043715843

1 SubmittersRCV001261558

NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)

SNV
Germline

Chr3:48586232

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2380477

rs_546776797

3 SubmittersRCV001277643 RCV001823191 RCV002542876

NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)

SNV
Germline

Chr3:48590733

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica inversa, autosomal recessive
Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2381138

rs_200762860

3 SubmittersRCV001278978 RCV002541698 RCV005367807

NM_000094.4(COL7A1):c.7272+1G>A

SNV
Germline

Chr3:48570860

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352649746

rs_2107648492

1 SubmittersRCV001594414

NM_000094.4(COL7A1):c.8109+1G>A

SNV
Germline

Chr3:48567127

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA73972921

rs_1050797523

2 SubmittersRCV001859240 RCV001580585

NM_000094.4(COL7A1):c.8304+1G>A

SNV
Germline

Chr3:48566659

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
7 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352637213

rs_759579761

4 SubmittersRCV001352717 RCV003135992 RCV002499656 RCV005094430

NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)

SNV
Germline

Chr3:48585610

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Condition: not provided
not specified
7 conditions

Criteria Provided
Conflicting Classifications

CA2380361

rs_569641113

5 SubmittersRCV001334216 RCV001780255 RCV005419090 RCV005038088

NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)

SNV
Germline

Chr3:48590228

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2381032

rs_751176402

2 SubmittersRCV001333206 RCV002546617

NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)

SNV
Germline

Chr3:48568804

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2378341

rs_762084565

4 SubmittersRCV001352867 RCV002276707 RCV003738051 RCV005023081

NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)

SNV
Germline

Chr3:48570145

Pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2378489

rs_765529435

6 SubmittersRCV001352863 RCV002276706 RCV004528479 RCV003558822 RCV005023080

NM_000094.4(COL7A1):c.7380+2T>C

SNV
Germline

Chr3:48570463

Pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352646742

rs_1249145909

4 SubmittersRCV001352862 RCV002276705 RCV003558821

NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)

SNV
Germline

Chr3:48570863

Pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA352649756

rs_1189942401

4 SubmittersRCV001352858 RCV004579573 RCV003718410 RCV005038118

NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)

SNV
Germline

Chr3:48570884

Pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA73975244

rs_983476178

4 SubmittersRCV001352827 RCV002276704 RCV003558819

NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)

SNV
Germline

Chr3:48572018

Pathogenic

Epidermolysis bullosa dystrophica
Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA500032

rs_1800013

3 SubmittersRCV001352824 RCV001871903 RCV002276703

NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)

SNV
Germline

Chr3:48575373

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352662972

rs_1410793870

3 SubmittersRCV001352764 RCV002547567 RCV003339611

NM_000094.4(COL7A1):c.5532+1G>T

SNV
Germline

Chr3:48578320

Pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352671605

rs_767182886

2 SubmittersRCV001352701 RCV002276700

NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)

SNV
Germline

Chr3:48584769

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
7 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352696856

rs_1156352791

5 SubmittersRCV001352811 RCV001823199 RCV002499708 RCV002548488

NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)

SNV
Germline

Chr3:48584049

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2380162

rs_146659822

3 SubmittersRCV001361010 RCV001826004 RCV005361564

NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)

SNV
Germline

Chr3:48593356

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352746226

rs_1245411910

3 SubmittersRCV001871963 RCV001823202

NM_000094.4(COL7A1):c.682+5G>A

SNV
Germline

Chr3:48593097

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2381486

rs_767647070

2 SubmittersRCV001732147

NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)

SNV
Germline

Chr3:48566545

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA352636944

rs_1333259313

4 SubmittersRCV001380605 RCV002276720 RCV005614533

NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)

SNV
Germline

Chr3:48567582

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2378194

rs_370744140

4 SubmittersRCV001389450 RCV002051943

NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)

SNV
Germline

Chr3:48573884

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352657548

rs_1461012195

2 SubmittersRCV001380772 RCV003328102

NM_000094.4(COL7A1):c.4783-1G>A

SNV
Germline

Chr3:48581484

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica

Criteria Provided
Multiple Submitters
No Conflicts

CA2379837

rs_371908708

3 SubmittersRCV001386007 RCV002276722 RCV001826167

NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr3:48590528

Pathogenic/Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
7 conditions
Transient bullous dermolysis of the newborn

Criteria Provided
Multiple Submitters
No Conflicts

CA2381093

rs_759634066

7 SubmittersRCV001388797 RCV002276723 RCV003898367 RCV005038204 RCV005232307

NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp)

SNV
Germline

Chr3:48566995

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2378140

rs_369591910

4 SubmittersRCV001528927 RCV005208166

NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln)

SNV
Germline

Chr3:48564917

Conflicting classifications of pathogenicity

Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2377896

rs_147911102

3 SubmittersRCV001535766 RCV002568914 RCV005361652

NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu)

SNV
Germline

Chr3:48572932

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA352654880

rs_2107659875

3 SubmittersRCV001547354 RCV004564016

NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser)

SNV
Unknown

Chr3:48584061

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352694783

rs_2107731142

1 SubmittersRCV001730025

NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp)

SNV
Germline

Chr3:48573037

Likely pathogenic

Generalized dominant dystrophic epidermolysis bullosa
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352655108

rs_2107660525

2 SubmittersRCV001732867 RCV003910990 RCV004798918

NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)

SNV
Germline

Chr3:48583164

Conflicting classifications of pathogenicity

7 conditions
Condition: not provided
Inborn genetic diseases
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2380013

rs_570707807

5 SubmittersRCV002478004 RCV002544207 RCV003247021 RCV003388612

NM_000094.4(COL7A1):c.2171-2A>G

SNV
Germline

Chr3:48589472

Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352725032

rs_1158674229

3 SubmittersRCV001780852 RCV002466270

NM_000094.4(COL7A1):c.5124+2T>C

SNV
Germline

Chr3:48580029

Likely pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352678316

rs_2107702819

2 SubmittersRCV001780854 RCV002466271

NM_000094.4(COL7A1):c.7795-2A>G

SNV
Germline

Chr3:48568172

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352642105

rs_2107637442

1 SubmittersRCV001806296

NM_000094.4(COL7A1):c.8047-2A>C

SNV
Germline

Chr3:48567192

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352640825

rs_2107633400

1 SubmittersRCV001808164

NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)

SNV
Germline

Chr3:48571150

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA352651222

rs_1233025207

3 SubmittersRCV001808307 RCV003679075 RCV003331210

NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)

SNV
Germline

Chr3:48580616

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352679815

rs_2107706875

1 SubmittersRCV001808928

NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)

SNV
Germline

Chr3:48565160

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352634093

rs_372166543

3 SubmittersRCV001823507 RCV003560868

NM_000094.4(COL7A1):c.3276+1G>A

SNV
Germline

Chr3:48586971

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352708085

rs_2045311247

1 SubmittersRCV001823535

NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)

SNV
Germline

Chr3:48566718

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA352638956

rs_2107631988

4 SubmittersRCV001823611 RCV003660907 RCV003892879

NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)

SNV
Germline

Chr3:48569440

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
COL7A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA352643993

rs_2107641787

3 SubmittersRCV001823653 RCV001869819 RCV003911042

NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala)

SNV
Germline

Chr3:48566914

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA352639340

rs_745691610

3 SubmittersRCV001896551 RCV002276924 RCV005023386

NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=)

SNV
Germline

Chr3:48584910

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2380288

rs_201597369

2 SubmittersRCV001998372 RCV002276967

NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu)

SNV
Germline

Chr3:48580047

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379668

rs_770304825

4 SubmittersRCV001898982 RCV004587247 RCV005038476

NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter)

SNV
Germline

Chr3:48591951

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2381254

rs_375539799

2 SubmittersRCV001903609 RCV004699546

NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)

SNV
Germline

Chr3:48593108

Pathogenic

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2381490

rs_753819164

2 SubmittersRCV001956468 RCV002276957

NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)

SNV
Germline

Chr3:48577000

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2379435

rs_146234310

5 SubmittersRCV002052063 RCV002508336 RCV005032144

NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)

SNV
Germline

Chr3:48576708

Likely pathogenic

Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352667779

rs_2107682264

1 SubmittersRCV005252122

NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)

SNV
Germline

Chr3:48572513

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352652902

rs_2107657132

1 SubmittersRCV002277046

NM_000094.4(COL7A1):c.7104+3A>T

SNV
Germline

Chr3:48571240

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA73975388

rs_749077987

3 SubmittersRCV002277047 RCV003738158 RCV005032191

NM_000094.4(COL7A1):c.1507+4A>T

SNV
Germline

Chr3:48591669

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA2580070039

rs_2107788093

1 SubmittersRCV002277051

NM_000094.4(COL7A1):c.2711-1G>C

SNV
Germline

Chr3:48587940

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352716743

rs_2107760970

1 SubmittersRCV002277052

NM_000094.4(COL7A1):c.4342-2A>G

SNV
Germline

Chr3:48583617

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352693056

rs_2107727475

1 SubmittersRCV002277055

NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)

SNV
Germline

Chr3:48575446

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352663399

rs_2107674627

1 SubmittersRCV002277062

NM_000094.4(COL7A1):c.6573+5G>A

SNV
Germline

Chr3:48573685

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA2580069949

rs_2107663986

1 SubmittersRCV002277063

NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)

SNV
Germline

Chr3:48573320

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2378902

rs_781720055

4 SubmittersRCV002277064 RCV003089139

NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)

SNV
Germline

Chr3:48573038

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352655114

rs_2107660536

1 SubmittersRCV002277065

NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)

SNV
Germline

Chr3:48572133

Pathogenic/Likely pathogenic

Transient bullous dermolysis of the newborn
Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA433535133

rs_1362309822

3 SubmittersRCV002246697 RCV002277067 RCV003560874

NM_000094.4(COL7A1):c.7521+2T>C

SNV
Germline

Chr3:48569878

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352645136

rs_2107643652

1 SubmittersRCV002277068

NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)

SNV
Germline

Chr3:48566933

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352639530

rs_2107632563

1 SubmittersRCV002277072

NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)

SNV
Germline

Chr3:48564872

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA352633036

rs_1242922135

3 SubmittersRCV002277074 RCV003728046 RCV005433182

NM_000094.4(COL7A1):c.977-1G>C

SNV
Germline

Chr3:48592468

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352739275

rs_2107793500

1 SubmittersRCV002277075

NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)

SNV
Germline

Chr3:48573191

Pathogenic

Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
Condition: not provided
Pretibial dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352655420

rs_2107661505

4 SubmittersRCV002277088 RCV003896072 RCV003101245 RCV003314032

NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu)

SNV
Germline

Chr3:48580615

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352679773

rs_2107706848

1 SubmittersRCV002244182

NM_000094.4(COL7A1):c.5053-2A>G

SNV
Germline

Chr3:48580346

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA2379690

rs_765480571

1 SubmittersRCV002244197

NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg)

SNV
Germline

Chr3:48572933

Pathogenic/Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352654887

rs_2107659888

2 SubmittersRCV002244235 RCV005095799

NM_000094.4(COL7A1):c.4635+1G>A

SNV
Germline

Chr3:48582322

Pathogenic/Likely pathogenic

Transient bullous dermolysis of the newborn
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2379924

rs_774890570

2 SubmittersRCV002249828 RCV004785543

NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)

SNV
Germline

Chr3:48573033

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2378857

rs_575575729

4 SubmittersRCV002265364 RCV003101487 RCV003388627

NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)

SNV
Germline

Chr3:48567162

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352640627

rs_2043644681

1 SubmittersRCV002283712

NM_000094.4(COL7A1):c.4172C>T (p.Pro1391Leu)

SNV
Germline

Chr3:48584323

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2380182

rs_767036698

2 SubmittersRCV003061080 RCV005356260

NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)

SNV
Germline

Chr3:48575893

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2379290

rs_527416146

2 SubmittersRCV002616545 RCV003388634

NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)

SNV
Germline

Chr3:48574496

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA2379045

rs_370428918

3 SubmittersRCV002648042 RCV003992715

NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)

SNV
Germline

Chr3:48575735

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
7 conditions

Criteria Provided
Conflicting Classifications

CA352665478

rs_1340588200

3 SubmittersRCV002651686 RCV003388635 RCV005034823

NM_000094.4(COL7A1):c.1720C>G (p.Arg574Gly)

SNV
Germline

Chr3:48590733

Conflicting classifications of pathogenicity

Condition: not provided
Recessive dystrophic epidermolysis bullosa
not specified

Criteria Provided
Conflicting Classifications

CA2381139

rs_200762860

3 SubmittersRCV003112079 RCV004763592 RCV004701003

NM_000094.4(COL7A1):c.8528-45G>A

SNV
Germline

Chr3:48565246

Conflicting classifications of pathogenicity

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2377953

rs_781077978

2 SubmittersRCV004796786 RCV003221564

NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)

SNV
Germline

Chr3:48569437

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352643977

rs_2530844081

1 SubmittersRCV003320014

NM_000094.4(COL7A1):c.3595C>T (p.Gln1199Ter)

SNV
Germline

Chr3:48586202

Likely pathogenic

Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Transient bullous dermolysis of the newborn

Criteria Provided
Single Submitter

CA352703630

rs_1276620073

1 SubmittersRCV003323340

NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)

SNV
Germline

Chr3:48566719

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

CA2378104

rs_121912853

1 SubmittersRCV003328130

NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr3:48592828

Pathogenic

Recessive dystrophic epidermolysis bullosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352741602

rs_2531335997

2 SubmittersRCV003334418 RCV003738433

NM_000094.4(COL7A1):c.8226+1G>C

SNV
Germline

Chr3:48566906

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352639223

rs_2530817264

1 SubmittersRCV003337846

NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)

SNV
Germline

Chr3:48571278

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352651615

rs_2530879298

1 SubmittersRCV003338089

NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)

SNV
Germline

Chr3:48575496

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352663810

rs_1002845719

1 SubmittersRCV003388736

NM_000094.4(COL7A1):c.6652-2A>G

SNV
Germline

Chr3:48573238

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352655851

rs_2044058094

1 SubmittersRCV003388751

NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala)

SNV
Germline

Chr3:48571250

Pathogenic/Likely pathogenic

Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352651445

rs_2043899331

3 SubmittersRCV003555063 RCV005036881 RCV004701730

NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)

SNV
Germline

Chr3:48568819

Likely pathogenic

Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA352643069

rs_760891216

3 SubmittersRCV003669039 RCV005030164 RCV004579622

NM_000094.4(COL7A1):c.4782+1G>A

SNV
Germline

Chr3:48581572

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352684475

rs_2531107840

1 SubmittersRCV003985994

NM_000094.4(COL7A1):c.4466G>A (p.Gly1489Asp)

SNV
Germline

Chr3:48583143

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

CA352691145

rs_1416352336

1 SubmittersRCV003990517

NM_000094.4(COL7A1):c.7025G>A (p.Gly2342Asp)

SNV
Unknown

Chr3:48572044

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

rs_2530892715

1 SubmittersRCV004566635

NM_000094.4(COL7A1):c.7727T>A (p.Leu2576Ter)

SNV
Germline

Chr3:48568815

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

rs_2530838087

1 SubmittersRCV004577304

NM_000094.4(COL7A1):c.4990G>A (p.Gly1664Arg)

SNV
Germline

Chr3:48580643

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

No Assertion Criteria Provided

rs_1560231816

1 SubmittersRCV004577413

NM_000094.4(COL7A1):c.5959C>T (p.Gln1987Ter)

SNV
Germline

Chr3:48575646

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

rs_2530978135

1 SubmittersRCV004578010

NM_000094.4(COL7A1):c.2858-1G>A

SNV
Germline

Chr3:48587555

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

rs_2531234929

1 SubmittersRCV004579644

NM_000094.4(COL7A1):c.7414G>A (p.Gly2472Ser)

SNV
Germline

Chr3:48570301

Conflicting classifications of pathogenicity

not specified
Recessive dystrophic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701118 RCV004787154

NM_000094.4(COL7A1):c.4198-1G>A

SNV
Germline

Chr3:48584062

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV004771720

NM_000094.4(COL7A1):c.6715G>A (p.Gly2239Ser)

SNV
Germline

Chr3:48573056

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV004788615

NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)

SNV
Germline

Chr3:48566533

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV004800131

NM_000094.4(COL7A1):c.3977G>T (p.Gly1326Val)

SNV
Germline

Chr3:48584944

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV004820993

NM_000094.4(COL7A1):c.7931G>A (p.Gly2644Glu)

SNV
Germline

Chr3:48567762

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV005087723

NM_000094.4(COL7A1):c.6574-2A>G

SNV
Germline

Chr3:48573559

Likely pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV005088376

NM_000094.4(COL7A1):c.4811G>A (p.Gly1604Glu)

SNV
Germline

Chr3:48581455

Pathogenic

Recessive dystrophic epidermolysis bullosa

Criteria Provided
Single Submitter

1 SubmittersRCV005237033