Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)	SNV Germline	Chr6:7566428	Pathogenic	Keratosis palmoplantaris striata 2 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA007905	rs_121912991	3 SubmittersRCV000018330 RCV002381256 RCV002513099
NM_004415.4(DSP):c.861T>G (p.Asn287Lys)	SNV Germline	Chr6:7565442	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	No Assertion Criteria Provided	CA007767	rs_121912993	1 SubmittersRCV003233070
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter)	SNV Germline	Chr6:7574786	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	No Assertion Criteria Provided	CA005360	rs_121912994	1 SubmittersRCV003233071
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)	SNV Germline	Chr6:7584358	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007112	rs_28931610	4 SubmittersRCV001851908 RCV000610244 RCV003233072 RCV004700249
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter)	SNV Germline	Chr6:7571928	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	No Assertion Criteria Provided	CA005220	rs_121912995	1 SubmittersRCV003233073
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)	SNV Germline	Chr6:7583062	Pathogenic	Lethal acantholytic epidermolysis bullosa Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA006621	rs_121912996	5 SubmittersRCV000018337 RCV000578822 RCV001048758 RCV005249991
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	SNV Germline	Chr6:7579989	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Long QT syndrome Primary dilated cardiomyopathy Condition: not provided Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA004255	rs_121912997	10 SubmittersRCV000018339 RCV000157195 RCV000598733 RCV004786273 RCV001851909 RCV002354165 RCV003531904
NM_004415.4(DSP):c.88G>A (p.Val30Met)	SNV Germline	Chr6:7542003	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy Right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Condition: not provided Woolly hair-skin fragility syndrome Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder	Criteria Provided Conflicting Classifications	CA004702	rs_121912998	28 SubmittersRCV000018340 RCV000029685 RCV000038118 RCV000234980 RCV000415109 RCV001083215 RCV000619218 RCV000724208 RCV001164369 RCV001198383 RCV001164370 RCV003996108 RCV003904847
NM_004415.4(DSP):c.8501G>A (p.Arg2834His)	SNV Germline	Chr6:7585763	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007679	rs_121912999	5 SubmittersRCV000018341 RCV005357137 RCV005402802 RCV004017257 RCV005222691
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	SNV Germline	Chr6:7584359	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007120	rs_387906618	8 SubmittersRCV001851996 RCV003233075 RCV005420518
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)	SNV Germline	Chr6:7585226	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007330	rs_193922671	8 SubmittersRCV000029683 RCV000983907 RCV001332449 RCV001506216 RCV004018686 RCV004802948
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)	SNV Germline	Chr6:7585563	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder	Criteria Provided Conflicting Classifications	CA007457	rs_145362059	16 SubmittersRCV000029684 RCV000038100 RCV000290266 RCV000385698 RCV000204143 RCV000249625 RCV000331222 RCV001092983 RCV003996124 RCV004751226
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	SNV Germline	Chr6:7568443	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy DSP-related arrhythmogenic cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Familial isolated arrhythmogenic right ventricular dysplasia Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA004862	rs_397516915	10 SubmittersRCV000208168 RCV000770234 RCV000991215 RCV001056868 RCV001813751 RCV002371832 RCV003330410 RCV003996331
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)	SNV Germline	Chr6:7568444	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004870	rs_397516916	8 SubmittersRCV000037990 RCV000253534 RCV002513492 RCV001177317 RCV004589531 RCV002496606 RCV003996332
NM_004415.4(DSP):c.1574+14G>T	SNV Germline	Chr6:7569354	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA005026	rs_200443042	8 SubmittersRCV000037996 RCV001161051 RCV001161050 RCV001161049 RCV001528753 RCV002054684
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)	SNV Germline	Chr6:7542072	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype DSP-related disorder	Criteria Provided Conflicting Classifications	CA005034	rs_397516918	7 SubmittersRCV000037997 RCV000836078 RCV001081644 RCV001176801 RCV002390153 RCV003944915
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)	SNV Germline	Chr6:7571887	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005202	rs_145650440	7 SubmittersRCV000038003 RCV000469452 RCV001564615 RCV001175862 RCV001293188 RCV004018856
NM_004415.4(DSP):c.2134G>A (p.Val712Met)	SNV Germline	Chr6:7574089	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Cardiovascular phenotype DSP-related disorder	Criteria Provided Conflicting Classifications	CA005291	rs_397516922	7 SubmittersRCV000038005 RCV000641779 RCV001508542 RCV005406773 RCV004018857 RCV003415775
NM_004415.4(DSP):c.214C>T (p.Gln72Ter)	SNV Germline	Chr6:7555761	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Single Submitter	CA005299	rs_397516923	2 SubmittersRCV000038006 RCV003764675
NM_004415.4(DSP):c.2346C>T (p.Asp782=)	SNV Germline	Chr6:7574705	Conflicting classifications of pathogenicity	not specified Condition: not provided Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005333	rs_139071827	14 SubmittersRCV000038007 RCV000234774 RCV000314301 RCV000349114 RCV000244439 RCV000402455 RCV000776152 RCV001084673 RCV003996335
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	SNV Germline	Chr6:7574781	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA004124	rs_150339369	10 SubmittersRCV000038008 RCV000148478 RCV000641847 RCV000622195 RCV000777603 RCV001084249 RCV001159873 RCV001159871 RCV001159872
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	SNV Germline	Chr6:7555789	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA005366	rs_140965835	13 SubmittersRCV000038009 RCV000470962 RCV000590870 RCV000770229 RCV001159442 RCV001160814 RCV001159441 RCV000766871 RCV002453313 RCV003996336 RCV002490516
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	SNV Germline	Chr6:7575454	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy Woolly hair-skin fragility syndrome Epidermolysis bullosa simplex due to plakophilin deficiency Condition: not provided Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA005421	rs_142429411	12 SubmittersRCV000038010 RCV000242786 RCV000238965 RCV000263694 RCV000372307 RCV000590388 RCV000318707 RCV000769221 RCV001082571
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	SNV Germline	Chr6:7576436	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Condition: not provided DSP-related disorder Cardiovascular phenotype Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA005587	rs_145933612	14 SubmittersRCV000038015 RCV000238651 RCV000473091 RCV000276162 RCV000370699 RCV000771365 RCV001095285 RCV001719746 RCV003964855 RCV004017316 RCV005406774
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)	SNV Germline	Chr6:7577031	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA005665	rs_397516928	5 SubmittersRCV000038022 RCV000245114 RCV000538882 RCV001187313 RCV003441730
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)	SNV Germline	Chr6:7579313	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Condition: not provided Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005735	rs_149929637	9 SubmittersRCV000038025 RCV000527373 RCV000777827 RCV000620599 RCV001650870 RCV001162944 RCV001162945 RCV001161401 RCV003996339
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)	SNV Germline	Chr6:7579836	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA004419	rs_199795359	7 SubmittersRCV000038029 RCV000171915 RCV000247902 RCV001182251 RCV001087636
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)	SNV Germline	Chr6:7580019	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA004272	rs_397516933	2 SubmittersRCV000038031 RCV003764677
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)	SNV Germline	Chr6:7580255	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiovascular phenotype Woolly hair-skin fragility syndrome Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004359	rs_148478829	17 SubmittersRCV000038034 RCV000291041 RCV000327042 RCV000253751 RCV000269608 RCV000463312 RCV000771828 RCV001086611 RCV003924923 RCV003996340
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)	SNV Germline	Chr6:7580679	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Cardiovascular phenotype Cardiomyopathy Restrictive cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder	Criteria Provided Conflicting Classifications	CA004497	rs_148041814	13 SubmittersRCV000038045 RCV000202877 RCV000845533 RCV000619831 RCV000770246 RCV000852995 RCV001080732 RCV003952433
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)	SNV Germline	Chr6:7580721	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA004529	rs_397516940	7 SubmittersRCV000038049 RCV000528916 RCV000256151 RCV001184211 RCV002336137 RCV003996344
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)	SNV Germline	Chr6:7580763	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004548	rs_145796901	4 SubmittersRCV000038053 RCV000464870 RCV001177318 RCV003298071
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)	SNV Germline	Chr6:7580926	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004149	rs_397516942	4 SubmittersRCV000038055 RCV002513495 RCV003531933
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	SNV Germline	Chr6:7559281	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Primary dilated cardiomyopathy Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA006226	rs_397516943	10 SubmittersRCV000038058 RCV000181275 RCV000621394 RCV000472617 RCV000999570 RCV003531934 RCV003996346
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)	SNV Germline	Chr6:7559288	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006246	rs_397516944	5 SubmittersRCV000038059 RCV001177319 RCV003105782 RCV001852797 RCV004806027
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)	SNV Germline	Chr6:7581357	Conflicting classifications of pathogenicity	Condition: not provided not specified Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004633	rs_142803672	14 SubmittersRCV000172541 RCV000038060 RCV000415705 RCV000465510 RCV000617235 RCV000627160 RCV000769230 RCV001165367 RCV001165368 RCV004751236 RCV004806028
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	SNV Germline	Chr6:7581408	Conflicting classifications of pathogenicity	Condition: not provided not specified Migraine Hemiplegia Primary dilated cardiomyopathy Woolly hair-skin fragility syndrome Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Long QT syndrome DSP-related disorder	Criteria Provided Conflicting Classifications	CA004588	rs_142885240	21 SubmittersRCV000172543 RCV000038062 RCV000415071 RCV000406700 RCV000621777 RCV000291666 RCV000376629 RCV000769232 RCV001082740 RCV001095215 RCV003318345 RCV003974881
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)	SNV Germline	Chr6:7582690	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006459	rs_397516946	4 SubmittersRCV000038064 RCV001852798 RCV002468992 RCV004018859
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)	SNV Germline	Chr6:7582784	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006489	rs_397516947	5 SubmittersRCV000038066 RCV000766555 RCV001189715 RCV002513496 RCV003996347
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)	SNV Germline	Chr6:7583006	Conflicting classifications of pathogenicity	Condition: not provided Primary familial dilated cardiomyopathy Palmoplantar blistering Skin fragility with non-scarring blistering Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006581	rs_146617683	8 SubmittersRCV000766551 RCV000624492 RCV000626866 RCV001087393 RCV001189716 RCV002345297 RCV003996348
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)	SNV Germline	Chr6:7583161	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006654	rs_397516949	6 SubmittersRCV000038069 RCV001177320 RCV003335069 RCV005213198 RCV003996349 RCV004018860
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)	SNV Germline	Chr6:7583174	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006662	rs_397516950	7 SubmittersRCV000038070 RCV000688727 RCV001509261 RCV003298072 RCV003996350
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)	SNV Germline	Chr6:7562661	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006705	rs_374100807	4 SubmittersRCV000038071 RCV000699696 RCV004018861 RCV003996351
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)	SNV Germline	Chr6:7583470	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Primary dilated cardiomyopathy DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006778	rs_41302885	24 SubmittersRCV000038072 RCV000244881 RCV000172544 RCV000415621 RCV000274742 RCV000367032 RCV000776062 RCV001085925 RCV001293067 RCV003974882 RCV004806029
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)	SNV Germline	Chr6:7583940	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Condition: not provided Cardiovascular phenotype Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA007013	rs_149070106	15 SubmittersRCV000038077 RCV000355781 RCV000312693 RCV000590624 RCV000619860 RCV000352732 RCV000776149 RCV001082443
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	SNV Germline	Chr6:7584143	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004685	rs_147000526	19 SubmittersRCV000038079 RCV000148480 RCV000171919 RCV000267252 RCV000297547 RCV000769239 RCV000621753 RCV001095181 RCV001079594 RCV004806031
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)	SNV Germline	Chr6:7562742	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007074	rs_147315869	11 SubmittersRCV000038081 RCV000172532 RCV000621103 RCV001083960 RCV000776199 RCV001164473 RCV003944916 RCV004806032
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	SNV Germline	Chr6:7562753	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Condition: not provided Cardiomyopathy Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007098	rs_397516955	7 SubmittersRCV000038082 RCV000546646 RCV000763564 RCV000519036 RCV000852568 RCV001841580 RCV002371833
NM_004415.4(DSP):c.727-10T>G	SNV Germline	Chr6:7563726	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA007167	rs_375327581	6 SubmittersRCV000038085 RCV000766872 RCV001087796 RCV001180073
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)	SNV Germline	Chr6:7584819	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007225	rs_397516957	7 SubmittersRCV000038089 RCV000318144 RCV000293672 RCV000555571 RCV000385620 RCV000777800 RCV002390154 RCV001711148 RCV003996354
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)	SNV Germline	Chr6:7585088	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007289	rs_397516959	4 SubmittersRCV000038091 RCV001177321 RCV001048691 RCV004803130
NM_004415.4(DSP):c.782C>T (p.Ala261Val)	SNV Germline	Chr6:7565363	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy DSP-related disorder	Criteria Provided Conflicting Classifications	CA007298	rs_139509870	8 SubmittersRCV000038092 RCV000249468 RCV000172533 RCV001079525 RCV001175837 RCV004751237
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	SNV Germline	Chr6:7585734	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Keratosis palmoplantaris striata 2 Condition: not provided DSP-related disorder	Criteria Provided Conflicting Classifications	CA007601	rs_2744380	18 SubmittersRCV000038104 RCV000241982 RCV000577996 RCV000328251 RCV000363396 RCV000577940 RCV000578053 RCV000775978 RCV001520271 RCV001659971 RCV001711149 RCV003891481
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)	SNV Germline	Chr6:7585717	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Woolly hair-skin fragility syndrome Cardiovascular phenotype Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007553	rs_138329459	15 SubmittersRCV000038105 RCV000172546 RCV000203133 RCV000392037 RCV000620878 RCV000337923 RCV000777790 RCV001095186 RCV001085488 RCV004803131
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)	SNV Germline	Chr6:7585729	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007575	rs_142717240	12 SubmittersRCV000038106 RCV000357526 RCV000405429 RCV000302977 RCV000477077 RCV000619198 RCV000587297 RCV000771367 RCV004803132
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)	SNV Germline	Chr6:7585798	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA007730	rs_397516972	6 SubmittersRCV000038113 RCV000658263 RCV001050089 RCV001183718 RCV004017318 RCV002490519
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)	SNV Germline	Chr6:7565448	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA007784	rs_397516973	2 SubmittersRCV000038115 RCV003764681
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)	SNV Germline	Chr6:7565449	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007793	rs_397516974	3 SubmittersRCV000038116 RCV003298073 RCV003764682
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)	SNV Germline	Chr6:7565470	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype DSP-related disorder Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA007809	rs_201930322	13 SubmittersRCV000038117 RCV000377642 RCV000337806 RCV000777710 RCV000371415 RCV000467769 RCV000786123 RCV004018863 RCV004751238 RCV005042110
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)	SNV Germline	Chr6:7565497	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007850	rs_368193211	8 SubmittersRCV000038120 RCV000527493 RCV000766873 RCV001181338 RCV003298074 RCV003335070 RCV003996360
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)	SNV Germline	Chr6:7566380	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA007889	rs_200476515	11 SubmittersRCV000038121 RCV000322105 RCV000355871 RCV000232142 RCV000263737 RCV000766874 RCV000620186 RCV000770231
NM_004415.4(DSP):c.1206G>A (p.Lys402=)	SNV Germline	Chr6:7567846	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA004810	rs_150422458	15 SubmittersRCV000154520 RCV000306089 RCV000248482 RCV000360771 RCV000341310 RCV000586565 RCV000771129 RCV001084107
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)	SNV Germline	Chr6:7559252	Conflicting classifications of pathogenicity	Collapse (finding) Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006110	rs_587782940	6 SubmittersRCV000143883 RCV003531968 RCV003998154 RCV001849966 RCV002498653 RCV004992013
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)	SNV Germline	Chr6:7571471	Likely pathogenic	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA005162	rs_606231294	4 SubmittersRCV000144960 RCV000181378 RCV001378477
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)	SNV Germline	Chr6:7570553	Pathogenic	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA005088	rs_606231295	3 SubmittersRCV000144961 RCV000995757 RCV003764879
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	SNV Germline	Chr6:7570558	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided Palmoplantar blistering Skin fragility with non-scarring blistering Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	Criteria Provided Conflicting Classifications	CA004119	rs_148147581	18 SubmittersRCV000148476 RCV000150560 RCV000285554 RCV000284191 RCV000515316 RCV000476727 RCV000617402 RCV000766877 RCV000626864 RCV000771793 RCV000735747 RCV003483521
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	SNV Germline	Chr6:7581514	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004575	rs_34738426	14 SubmittersRCV000148479 RCV000215521 RCV000460497 RCV000764660 RCV000677333 RCV000766884 RCV001192114 RCV001332447 RCV003998168
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)	SNV Germline	Chr6:7582775	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004678	rs_377715841	9 SubmittersRCV000148475 RCV000181329 RCV000296688 RCV000351218 RCV000391247 RCV000458538 RCV000987653 RCV000777694 RCV002345454
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)	SNV Germline	Chr6:7584385	Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004694	rs_376923069	4 SubmittersRCV000148481 RCV003298150 RCV004017421
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)	SNV Germline	Chr6:7580370	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA004405	rs_140474226	2 SubmittersRCV000210378 RCV000692510
NM_004415.4(DSP):c.939+1G>A	SNV Germline	Chr6:7565521	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Keratosis palmoplantaris striata 2 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA007878	rs_727504443	13 SubmittersRCV000155023 RCV000211717 RCV000421912 RCV000656500 RCV000791442 RCV004806092 RCV002372015 RCV003486698
NM_004415.4(DSP):c.2723G>A (p.Arg908His)	SNV Germline	Chr6:7576386	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005516	rs_142494121	20 SubmittersRCV000154408 RCV000330101 RCV000172535 RCV000619767 RCV000275053 RCV000300911 RCV000771121 RCV001083035 RCV003907460 RCV003993836
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)	SNV Germline	Chr6:7579697	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Condition: not provided Cardiovascular phenotype DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005818	rs_148894066	9 SubmittersRCV000155792 RCV000358299 RCV000265470 RCV000463442 RCV000310488 RCV000771827 RCV001311706 RCV002453517 RCV004751304 RCV003998290
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)	SNV Germline	Chr6:7579820	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004366	rs_727503001	4 SubmittersRCV000150567 RCV000181312 RCV003764911 RCV003298155
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)	SNV Germline	Chr6:7580052	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Long QT syndrome	Criteria Provided Conflicting Classifications	CA004279	rs_138907450	13 SubmittersRCV000154713 RCV000459782 RCV000342008 RCV000403440 RCV000404310 RCV000620854 RCV000723628 RCV000771831 RCV003998268 RCV003318357
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)	SNV Germline	Chr6:7580146	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	Criteria Provided Conflicting Classifications	CA004299	rs_138599871	7 SubmittersRCV000156223 RCV000778002 RCV001348891 RCV000766823 RCV004806093 RCV004786414
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)	SNV Germline	Chr6:7580680	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Cardiovascular phenotype Condition: not provided Cardiomyopathy 6 conditions	Criteria Provided Conflicting Classifications	CA004501	rs_727505037	10 SubmittersRCV000156464 RCV000157198 RCV000641822 RCV000577979 RCV000578111 RCV000578033 RCV002326889 RCV001840195 RCV001184237 RCV002498768
NM_004415.4(DSP):c.797T>C (p.Met266Thr)	SNV Germline	Chr6:7565378	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA007336	rs_370890663	4 SubmittersRCV000155791 RCV003764958 RCV002415667 RCV005401339
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)	SNV Germline	Chr6:7569267	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004988	rs_368778031	3 SubmittersRCV000154708 RCV001850118 RCV003531983
NM_004415.4(DSP):c.1743C>T (p.Ala581=)	SNV Germline	Chr6:7571424	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005132	rs_139095230	9 SubmittersRCV000154709 RCV000231994 RCV000335979 RCV000336664 RCV000406249 RCV001618309 RCV002399543 RCV001171089 RCV003998265
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	SNV Germline	Chr6:7576347	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Primary dilated cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified	Criteria Provided Conflicting Classifications	CA005492	rs_367752002	13 SubmittersRCV000171390 RCV000157192 RCV000777747 RCV001243440 RCV001293120 RCV002433646 RCV002478423 RCV003998198 RCV005055619
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)	SNV Germline	Chr6:7577015	Conflicting classifications of pathogenicity	not specified 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA005652	rs_727502999	6 SubmittersRCV000150563 RCV002483305 RCV001850046 RCV003998199 RCV002433647 RCV003531970
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)	SNV Germline	Chr6:7579840	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiovascular phenotype Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004431	rs_535202724	13 SubmittersRCV000150568 RCV000288923 RCV000352140 RCV000620762 RCV000381164 RCV000641836 RCV000777712 RCV001528379 RCV001293159 RCV003998200
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)	SNV Germline	Chr6:7580295	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided 6 conditions Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004373	rs_141805096	8 SubmittersRCV000150569 RCV000468044 RCV000766880 RCV002505144 RCV002321623 RCV003998201 RCV005401337
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	SNV Germline	Chr6:7581368	Conflicting classifications of pathogenicity	not specified Condition: not provided Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder	Criteria Provided Conflicting Classifications	CA004621	rs_147415451	19 SubmittersRCV000154715 RCV000172542 RCV000369571 RCV000405736 RCV000363258 RCV001084754 RCV000618693 RCV000769231 RCV000853150 RCV004806091 RCV003945216
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)	SNV Germline	Chr6:7582806	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006508	rs_727503004	5 SubmittersRCV000150575 RCV000302959 RCV000406140 RCV000357734 RCV001189906 RCV001488164 RCV003998203
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)	SNV Germline	Chr6:7585414	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007395	rs_727504569	4 SubmittersRCV000155737 RCV001057381 RCV002415665 RCV003998288
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)	SNV Germline	Chr6:7585636	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007514	rs_727504570	6 SubmittersRCV000155738 RCV001160404 RCV001160405 RCV001159059 RCV001319008 RCV002433682 RCV005402856 RCV004804671
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)	SNV Germline	Chr6:7582785	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006496	rs_730882116	12 SubmittersRCV000154714 RCV000298785 RCV000338424 RCV000391258 RCV000554991 RCV000771830 RCV001701692 RCV003998269 RCV003952763 RCV002345499
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)	SNV Germline	Chr6:7582816	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy DSP-related disorder	Criteria Provided Conflicting Classifications	CA006531	rs_550818559	5 SubmittersRCV000150576 RCV000621108 RCV000528868 RCV000777829 RCV003952711
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)	SNV Germline	Chr6:7583629	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA006892	rs_372242085	5 SubmittersRCV000150578 RCV001850047 RCV002362787 RCV002505145 RCV001556589
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	SNV Germline	Chr6:7585178	Conflicting classifications of pathogenicity	not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Long QT syndrome DSP-related disorder	Criteria Provided Conflicting Classifications	CA007320	rs_116888866	19 SubmittersRCV000150581 RCV000157210 RCV000245063 RCV000262145 RCV000319713 RCV000369032 RCV000490472 RCV000771821 RCV000987654 RCV001086541 RCV001704081 RCV003318355 RCV003945184
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)	SNV Germline	Chr6:7585453	Conflicting classifications of pathogenicity	not specified Condition: not provided Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007423	rs_201397978	13 SubmittersRCV000150582 RCV000172545 RCV000299334 RCV000407212 RCV000356762 RCV000771201 RCV001088175 RCV002426712
NM_004415.4(DSP):c.264C>T (p.Ile88=)	SNV Germline	Chr6:7555811	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005476	rs_727502997	9 SubmittersRCV000150555 RCV000283641 RCV000301234 RCV000340926 RCV000588501 RCV001087334 RCV001188350 RCV002453482
NM_004415.4(DSP):c.273+5G>A	SNV Germline	Chr6:7555825	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA005542	rs_200473206	17 SubmittersRCV000150557 RCV000157211 RCV000157212 RCV000232421 RCV000239152 RCV000589518 RCV000776291 RCV001160815 RCV001162435 RCV001162436 RCV002433645 RCV003989330 RCV002492553
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)	SNV Germline	Chr6:7562697	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006931	rs_148095061	7 SubmittersRCV000154707 RCV000466856 RCV000776301 RCV001576627 RCV005042302 RCV003998264 RCV004019852
NM_004415.4(DSP):c.2131-10T>C	SNV Germline	Chr6:7574076	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005273	rs_369821143	3 SubmittersRCV000154712 RCV002056056 RCV003998267
NM_004415.4(DSP):c.170+11G>T	SNV Germline	Chr6:7542096	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA005103	rs_727505007	2 SubmittersRCV000156428 RCV003764973
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	SNV Germline	Chr6:7555816	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype DSP-related disorder	Criteria Provided Conflicting Classifications	CA005503	rs_188516326	11 SubmittersRCV000150556 RCV000313888 RCV000397112 RCV000335027 RCV000462579 RCV000771368 RCV001704080 RCV002433644 RCV003895036
NM_004415.4(DSP):c.2130+1G>A	SNV Germline	Chr6:7572069	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided DSP-related disorder Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA005266	rs_727505115	8 SubmittersRCV000156570 RCV001699211 RCV003390851 RCV003531990 RCV003998319 RCV003764976
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)	SNV Germline	Chr6:7569310	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA005018	rs_730880079	6 SubmittersRCV000157187 RCV000793906 RCV003998329 RCV001753552
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)	SNV Germline	Chr6:7574215	Conflicting classifications of pathogenicity	Cardiac arrest Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005315	rs_730880080	5 SubmittersRCV000157189 RCV001183305 RCV001857553 RCV002444649 RCV003998330
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)	SNV Germline	Chr6:7575427	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA005414	rs_548695484	5 SubmittersRCV000157190 RCV000620868 RCV001037448 RCV001189653 RCV005406853
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)	SNV Germline	Chr6:7576307	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005457	rs_730880081	6 SubmittersRCV000157191 RCV000815259 RCV001762338 RCV001804870 RCV003162651 RCV003998331
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	SNV Germline	Chr6:7576986	Pathogenic/Likely pathogenic	Cardiac arrest Condition: not provided Familial isolated arrhythmogenic right ventricular dysplasia Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005630	rs_730880082	10 SubmittersRCV000157193 RCV000181308 RCV000590295 RCV001171092 RCV000698149 RCV002433688
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)	SNV Germline	Chr6:7580163	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA004327	rs_41302883	5 SubmittersRCV000157196 RCV000478356 RCV000621016 RCV001179543 RCV003764987
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)	SNV Germline	Chr6:7580847	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004136	rs_730880084	6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003372622 RCV003998332
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)	SNV Germline	Chr6:7581076	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004187	rs_200243976	7 SubmittersRCV000157200 RCV000391545 RCV000373402 RCV000435354 RCV001095250 RCV000547728 RCV000619025 RCV000777787
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)	SNV Germline	Chr6:7581105	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004201	rs_539587517	5 SubmittersRCV000157201 RCV000797000 RCV001184780 RCV002272145 RCV002336341
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)	SNV Germline	Chr6:7581163	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy not specified Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis DSP-related disorder	Criteria Provided Conflicting Classifications	CA004223	rs_202084959	9 SubmittersRCV000171916 RCV000157202 RCV001319135 RCV004992032 RCV001182018 RCV005237591 RCV005625344 RCV003398814
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	SNV Germline	Chr6:7583569	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA006835	rs_149513743	12 SubmittersRCV000157206 RCV000181387 RCV000259235 RCV000316774 RCV000477049 RCV000318076 RCV000777748 RCV001095257 RCV002362836 RCV002484961
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)	SNV Germline	Chr6:7583804	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA006976	rs_730880088	5 SubmittersRCV000157208 RCV003998334 RCV003162652 RCV003162653 RCV002516353
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)	SNV Germline	Chr6:7584074	Conflicting classifications of pathogenicity	Ventricular fibrillation, paroxysmal familial, type 1 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007031	rs_730880089	3 SubmittersRCV000157209 RCV000538142 RCV004019895
NM_004415.4(DSP):c.1352G>A (p.Arg451His)	SNV Germline	Chr6:7568522	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004905	rs_786204294	4 SubmittersRCV000230398 RCV001582663 RCV003150035 RCV003995634
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)	SNV Germline	Chr6:7576987	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005638	rs_759869347	6 SubmittersRCV000168645 RCV001186292 RCV001850383 RCV002433723 RCV002492682 RCV003995636
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)	SNV Germline	Chr6:7579752	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Cardiovascular phenotype not specified 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005843	rs_141508330	15 SubmittersRCV000171913 RCV000185557 RCV000230086 RCV000777754 RCV001161514 RCV001161515 RCV002453565 RCV003488414 RCV002492683 RCV003995637
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)	SNV Germline	Chr6:7580965	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004168	rs_200421954	8 SubmittersRCV000168648 RCV000464510 RCV000778012 RCV001847799 RCV002336384 RCV003995638
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)	SNV Germline	Chr6:7581253	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 1 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004665	rs_372288373	5 SubmittersRCV000688203 RCV001186293 RCV001256762 RCV003995639 RCV005328219
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)	SNV Germline	Chr6:7581384	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA004608	rs_780224658	6 SubmittersRCV001186294 RCV001230073 RCV002336385 RCV002505219 RCV003995640 RCV004589827
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)	SNV Germline	Chr6:7581553	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA004568	rs_139673146	9 SubmittersRCV000168651 RCV000797985 RCV001183735 RCV002345562 RCV003995641 RCV004700519 RCV004786483 RCV005003513
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)	SNV Germline	Chr6:7584387	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA007142	rs_141709096	9 SubmittersRCV000168655 RCV000338092 RCV000298541 RCV000468695 RCV000360346 RCV000617624 RCV000777713 RCV001721093
NM_004415.4(DSP):c.386G>A (p.Arg129Gln)	SNV Germline	Chr6:7558228	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005938	rs_749155619	7 SubmittersRCV000171908 RCV001170911 RCV002517657 RCV003995664 RCV005235080
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)	SNV Germline	Chr6:7570492	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005059	rs_201960323	7 SubmittersRCV000171909 RCV000521366 RCV000774660 RCV001852087 RCV003985016 RCV003995665 RCV004020050
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)	SNV Germline	Chr6:7579790	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004249	rs_202049575	7 SubmittersRCV000171914 RCV000693151 RCV001523968 RCV002453593 RCV003387786
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)	SNV Germline	Chr6:7580224	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004347	rs_201964660	4 SubmittersRCV000172537 RCV001191383 RCV002516569 RCV003995676
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)	SNV Germline	Chr6:7580931	Conflicting classifications of pathogenicity	Condition: not provided not specified Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA004153	rs_186842903	9 SubmittersRCV000172539 RCV000223681 RCV000304932 RCV000335501 RCV000405660 RCV000617663 RCV000777774 RCV001082657
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)	SNV Germline	Chr6:7583238	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006670	rs_763921000	3 SubmittersRCV000171918 RCV001204085 RCV003995668
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)	SNV Germline	Chr6:7585079	Conflicting classifications of pathogenicity	Condition: not provided Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007281	rs_199597935	6 SubmittersRCV000171921 RCV001158964 RCV001158963 RCV001158965 RCV001184995 RCV001371106 RCV003995669
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)	SNV Germline	Chr6:7585126	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA007306	rs_752616130	3 SubmittersRCV000171922 RCV000554772 RCV001524839
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)	SNV Germline	Chr6:7585724	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy	Criteria Provided Conflicting Classifications	CA007566	rs_201826850	5 SubmittersRCV000171924 RCV000618112 RCV001088341 RCV001160407 RCV001160408 RCV001160406 RCV001183474
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)	SNV Germline	Chr6:7585007	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007266	rs_751712837	8 SubmittersRCV000176483 RCV001180811 RCV001327337 RCV002492761 RCV003995685 RCV003165368
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)	SNV Germline	Chr6:7541962	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006233	rs_752387234	6 SubmittersRCV000181354 RCV000691756 RCV001179622 RCV002336448 RCV002492801 RCV003996666
NM_004415.4(DSP):c.151C>T (p.Gln51Ter)	SNV Germline	Chr6:7542066	Pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA005003	rs_794728156	2 SubmittersRCV000181391 RCV005222799
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)	SNV Germline	Chr6:7555744	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005211	rs_794728152	4 SubmittersRCV000181376 RCV002516833 RCV004806172 RCV002415769
NM_004415.4(DSP):c.273+1G>A	SNV Germline	Chr6:7555821	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA005529	rs_794728106	4 SubmittersRCV000181270 RCV001852265 RCV003996637 RCV005401357
NM_004415.4(DSP):c.273+3A>G	SNV Germline	Chr6:7555823	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005536	rs_794728107	5 SubmittersRCV000181271 RCV001189662 RCV001852266 RCV004020189 RCV003996638
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)	SNV Germline	Chr6:7559324	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 not specified Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006407	rs_377507763	9 SubmittersRCV000181276 RCV000526423 RCV000781333 RCV001177596 RCV002336445 RCV002478607 RCV003996639
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)	SNV Germline	Chr6:7565469	Pathogenic/Likely pathogenic	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA007801	rs_149701627	3 SubmittersRCV000181280 RCV001176346 RCV001237792
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)	SNV Germline	Chr6:7567376	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Keratosis palmoplantaris striata 2 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004763	rs_780626687	8 SubmittersRCV000414775 RCV000590097 RCV000816725 RCV001190479 RCV001198235 RCV002408784 RCV002485188 RCV003996641
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)	SNV Germline	Chr6:7567411	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004770	rs_794728112	5 SubmittersRCV000181286 RCV000617850 RCV001240538 RCV001526098 RCV003996642
NM_004415.4(DSP):c.1344G>A (p.Leu448=)	SNV Germline	Chr6:7568514	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Condition: not provided DSP-related disorder	Criteria Provided Conflicting Classifications	CA004898	rs_138226280	13 SubmittersRCV000181255 RCV000227634 RCV000621322 RCV000771824 RCV001164570 RCV001164569 RCV001162536 RCV001701700 RCV003937647
NM_004415.4(DSP):c.1426G>A (p.Val476Met)	SNV Germline	Chr6:7569192	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004943	rs_367987327	5 SubmittersRCV000181289 RCV001179617 RCV001370467 RCV003996643 RCV004992057
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)	SNV Germline	Chr6:7569234	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004958	rs_781084693	7 SubmittersRCV000181290 RCV000778029 RCV001051422 RCV001164571 RCV001164572 RCV001164573 RCV001328341 RCV002390450 RCV003996644
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter)	SNV Germline	Chr6:7570473	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Single Submitter	CA005042	rs_794728114	1 SubmittersRCV003032210
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)	SNV Germline	Chr6:7571412	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005124	rs_794728101	4 SubmittersRCV000544740 RCV001190477 RCV002247597 RCV003996632
NM_004415.4(DSP):c.2027G>A (p.Arg676His)	SNV Germline	Chr6:7571965	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005232	rs_777782794	3 SubmittersRCV001053428 RCV001191360 RCV003996645
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)	SNV Germline	Chr6:7575326	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA005390	rs_141834182	7 SubmittersRCV000181300 RCV001048380 RCV001179618 RCV002444728 RCV002485189 RCV003227697
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)	SNV Germline	Chr6:7575410	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005407	rs_111368396	10 SubmittersRCV000181301 RCV000524989 RCV000769220 RCV002426871 RCV002503703 RCV003488434 RCV003996647
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter)	SNV Germline	Chr6:7575475	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005429	rs_794728118	2 SubmittersRCV001237784 RCV005549921
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)	SNV Germline	Chr6:7575480	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005436	rs_751067479	7 SubmittersRCV000181303 RCV000535270 RCV000617477 RCV000769222 RCV002485190 RCV003996648
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)	SNV Germline	Chr6:7576307	Pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA005467	rs_730880081	2 SubmittersRCV000181304 RCV001852269
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)	SNV Germline	Chr6:7576428	Conflicting classifications of pathogenicity	Condition: not provided Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA005581	rs_755099716	5 SubmittersRCV000181305 RCV001162840 RCV001164897 RCV001164896 RCV001184499 RCV002433787 RCV002517770
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	SNV Germline	Chr6:7576437	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Familial restrictive cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA005594	rs_139799237	12 SubmittersRCV000181307 RCV000327634 RCV000283495 RCV000291383 RCV000456401 RCV000621213 RCV000777766 RCV000853132 RCV001256832 RCV004806171
NM_004415.4(DSP):c.2985G>A (p.Glu995=)	SNV Germline	Chr6:7577886	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder	Criteria Provided Conflicting Classifications	CA005698	rs_768858918	6 SubmittersRCV000181311 RCV000685638 RCV002433788 RCV003532018 RCV003996649 RCV004751347
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	SNV Germline	Chr6:7579806	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy 1S Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided not specified Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004293	rs_151115778	11 SubmittersRCV000238924 RCV000491844 RCV000461417 RCV000727240 RCV000780218 RCV001177071 RCV002453646 RCV003996633
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)	SNV Germline	Chr6:7579851	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004450	rs_794728120	5 SubmittersRCV000181313 RCV000253679 RCV002516831 RCV005401358
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)	SNV Germline	Chr6:7579891	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA004175	rs_185367490	6 SubmittersRCV000181314 RCV000778030 RCV001079445 RCV004020190 RCV005361088
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)	SNV Germline	Chr6:7579905	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA004206	rs_752645827	2 SubmittersRCV000793078 RCV001185416
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)	SNV Germline	Chr6:7579990	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004259	rs_759698959	6 SubmittersRCV000181380 RCV000697890 RCV001184990 RCV002354474 RCV003996668
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	SNV Germline	Chr6:7579995	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA004265	rs_767643821	11 SubmittersRCV000181316 RCV000709723 RCV001028062 RCV001388420 RCV003165384 RCV003150054 RCV005431529
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)	SNV Germline	Chr6:7580161	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions not specified	Criteria Provided Conflicting Classifications	CA004321	rs_749820299	6 SubmittersRCV000181381 RCV000248590 RCV001182505 RCV001217138 RCV002485193 RCV005237666
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)	SNV Germline	Chr6:7580365	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004398	rs_201736018	9 SubmittersRCV000181320 RCV000815172 RCV001180303 RCV001704862 RCV002326981 RCV003996650
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	SNV Germline	Chr6:7580388	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Dilated cardiomyopathy 1A Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA004412	rs_770873593	12 SubmittersRCV000181321 RCV000697999 RCV001176347 RCV001256837 RCV001336684 RCV002326982 RCV002500527 RCV004796071
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)	SNV Germline	Chr6:7581091	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004194	rs_144106775	8 SubmittersRCV000181324 RCV000203117 RCV000704467 RCV000766881 RCV001181056 RCV002336446 RCV003996652
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)	SNV Germline	Chr6:7581133	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004213	rs_202232360	5 SubmittersRCV000181260 RCV000778027 RCV001087060 RCV002336443 RCV003996634
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)	SNV Germline	Chr6:7581151	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004217	rs_749730642	9 SubmittersRCV000219274 RCV000457559 RCV000771384 RCV000853137 RCV001537824 RCV002345629 RCV003996651
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)	SNV Germline	Chr6:7581187	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA004229	rs_768577891	7 SubmittersRCV000181261 RCV000641770 RCV000778028 RCV002336444 RCV002500526
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)	SNV Germline	Chr6:7581225	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004671	rs_762561997	10 SubmittersRCV000181325 RCV000686543 RCV000766882 RCV001179619 RCV002336447 RCV004751348 RCV003996653
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)	SNV Germline	Chr6:7581402	Pathogenic	Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA004601	rs_794728124	6 SubmittersRCV000619482 RCV000655930 RCV001526108 RCV003480077 RCV003996654 RCV004556760
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)	SNV Germline	Chr6:7583143	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006646	rs_368869076	5 SubmittersRCV000181335 RCV000641808 RCV001179620 RCV002354470
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)	SNV Germline	Chr6:7583317	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006697	rs_771974957	5 SubmittersRCV000181385 RCV001041422 RCV001182506 RCV002354475 RCV003996670
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)	SNV Germline	Chr6:7583450	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006758	rs_142927608	5 SubmittersRCV000181338 RCV000617463 RCV001179621 RCV001343592 RCV003996658
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)	SNV Germline	Chr6:7583510	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006785	rs_574637009	6 SubmittersRCV000181339 RCV000463211 RCV001181425 RCV002362928 RCV003996659
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)	SNV Germline	Chr6:7583659	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA006920	rs_372393122	11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)	SNV Germline	Chr6:7583740	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA006940	rs_777573018	7 SubmittersRCV001206927 RCV003996660 RCV001529323 RCV004992058 RCV003454479
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)	SNV Germline	Chr6:7583741	Conflicting classifications of pathogenicity	Condition: not provided Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA006950	rs_146642551	7 SubmittersRCV000181343 RCV000344461 RCV000406693 RCV000295633 RCV000800064 RCV001181803 RCV002354473 RCV002478608 RCV003996661
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)	SNV Germline	Chr6:7583758	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy DSP-related cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA006958	rs_141026028	5 SubmittersRCV000181342 RCV000618020 RCV000641796 RCV001176348 RCV003389242
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)	SNV Germline	Chr6:7584112	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA007041	rs_794728130	6 SubmittersRCV000181344 RCV003765110 RCV003996662 RCV004017454 RCV004992059 RCV005402869
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)	SNV Germline	Chr6:7584572	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007189	rs_794728132	4 SubmittersRCV000181346 RCV001182504 RCV001215904 RCV002381586
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)	SNV Germline	Chr6:7584837	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007234	rs_780156504	5 SubmittersRCV000181389 RCV000620037 RCV001179623 RCV001852274 RCV003996671
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)	SNV Germline	Chr6:7585738	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA007610	rs_139969658	5 SubmittersRCV000181351 RCV002444729 RCV002515308 RCV002485192 RCV003996664
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)	SNV Germline	Chr6:7579484	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA277899	rs_535762713	6 SubmittersRCV000203129 RCV000998523 RCV001222455 RCV000620457 RCV001183800 RCV003997052
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)	SNV Germline	Chr6:7583951	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular phenotype 6 conditions Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA048221	rs_759982048	6 SubmittersRCV000202734 RCV001184544 RCV002363023 RCV002500637 RCV001705162 RCV002515500
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)	SNV Germline	Chr6:7585762	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA052606	rs_753033333	11 SubmittersRCV000202757 RCV000821527 RCV000480458 RCV002444822 RCV002500638 RCV003997054 RCV003532050
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)	SNV Germline	Chr6:7541970	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA045323	rs_777340009	4 SubmittersRCV000208151 RCV002517394 RCV003532052 RCV003997676
NM_004415.4(DSP):c.265G>A (p.Val89Met)	SNV Germline	Chr6:7555812	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA034526	rs_766022243	4 SubmittersRCV000208347 RCV003765342 RCV003997677 RCV005402884
NM_004415.4(DSP):c.598-4G>A	SNV Germline	Chr6:7562648	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA046498	rs_747448946	7 SubmittersRCV000208515 RCV000443483 RCV000531712 RCV001190669 RCV000621482 RCV003997684
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)	SNV Germline	Chr6:7571985	Conflicting classifications of pathogenicity	Cardiac arrest Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA031498	rs_775181391	5 SubmittersRCV000208261 RCV000617885 RCV001525885 RCV001853298 RCV003997678
NM_004415.4(DSP):c.2597G>A (p.Arg866His)	SNV Germline	Chr6:7575455	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA034081	rs_764965132	4 SubmittersRCV000208025 RCV001228122 RCV003437008 RCV002426975
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)	SNV Germline	Chr6:7579324	Conflicting classifications of pathogenicity	Ventricular fibrillation Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy 6 conditions Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA037219	rs_374263890	8 SubmittersRCV000208250 RCV000465636 RCV000852571 RCV002485358 RCV003437009 RCV004020554 RCV003997679
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)	SNV Germline	Chr6:7580998	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA351759	rs_869025393	4 SubmittersRCV000208078 RCV002336577 RCV003997680 RCV001347430
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)	SNV Germline	Chr6:7581256	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA351901	rs_869025394	4 SubmittersRCV000208263 RCV001297580 RCV002345748 RCV003997681
NM_004415.4(DSP):c.5379+8C>G	SNV Germline	Chr6:7581577	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA079695	rs_771984464	2 SubmittersRCV000208350 RCV000983770
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)	SNV Germline	Chr6:7582879	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Condition: not provided not specified Keratosis palmoplantaris striata 2 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	Criteria Provided Conflicting Classifications	CA045373	rs_144392839	8 SubmittersRCV000208104 RCV000333252 RCV000387699 RCV000539472 RCV000330069 RCV002345749 RCV001188116 RCV001705181 RCV005235117 RCV005031780
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	SNV Germline	Chr6:7583113	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA353961	rs_869025395	7 SubmittersRCV000208287 RCV000427986 RCV000529617 RCV002515542 RCV001187850 RCV004992082 RCV003997682
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr)	SNV Germline	Chr6:7584511	Conflicting classifications of pathogenicity	Cardiac arrest Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA049348	rs_760501352	2 SubmittersRCV000208310 RCV001853300
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)	SNV Germline	Chr6:7585186	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA351806	rs_869025397	11 SubmittersRCV000208142 RCV000220371 RCV000469566 RCV001185751 RCV001762452 RCV002485359 RCV003997683 RCV003298272
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)	SNV Germline	Chr6:7585196	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051192	rs_749682166	2 SubmittersRCV000208399 RCV001853301
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)	SNV Germline	Chr6:7565458	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10576692	rs_876657799	5 SubmittersRCV000213251 RCV001349341 RCV001770162 RCV005235137
NM_004415.4(DSP):c.939C>T (p.Ser313=)	SNV Germline	Chr6:7565520	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Epidermolysis bullosa simplex due to plakophilin deficiency Woolly hair-skin fragility syndrome Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA053203	rs_766580649	8 SubmittersRCV000214984 RCV000264555 RCV000304703 RCV000361568 RCV000395114 RCV001187858 RCV001726053 RCV002444862 RCV002517546
NM_004415.4(DSP):c.1483G>A (p.Val495Met)	SNV Germline	Chr6:7569249	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Ventricular tachycardia	Criteria Provided Conflicting Classifications	CA028405	rs_372014020	10 SubmittersRCV000220212 RCV000766808 RCV001089348 RCV001159658 RCV001159659 RCV001159660 RCV000619701 RCV000776308 RCV000852569
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)	SNV Germline	Chr6:7571554	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10576696	rs_876657638	3 SubmittersRCV000214415 RCV000813995 RCV002408930
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)	SNV Germline	Chr6:7575404	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA033863	rs_778636665	6 SubmittersRCV000218085 RCV000766550 RCV000468852 RCV000620836 RCV001189152 RCV003997731
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)	SNV Germline	Chr6:7579493	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA037736	rs_372440854	12 SubmittersRCV000216605 RCV000351324 RCV000294045 RCV000241632 RCV000338741 RCV000587379 RCV000776183 RCV001079139
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)	SNV Germline	Chr6:7579697	Likely pathogenic	Primary dilated cardiomyopathy Keratosis palmoplantaris striata 2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA10576698	rs_148894066	2 SubmittersRCV000218217 RCV004796108
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)	SNV Germline	Chr6:7579996	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA10576699	rs_876657795	5 SubmittersRCV000217337 RCV001190730 RCV000690560 RCV003298281 RCV002485384
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)	SNV Germline	Chr6:7580668	Conflicting classifications of pathogenicity	not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA041687	rs_760433367	6 SubmittersRCV000215393 RCV000294546 RCV000352223 RCV000407699 RCV001853449 RCV003997732 RCV001183806 RCV005549928
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)	SNV Germline	Chr6:7580704	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA041817	rs_375919492	6 SubmittersRCV000218906 RCV000641799 RCV001187399 RCV003997733 RCV002338679
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)	SNV Germline	Chr6:7580716	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA041851	rs_577061462	6 SubmittersRCV000221227 RCV000641844 RCV000771205 RCV001555477 RCV002327087
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)	SNV Germline	Chr6:7582679	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA045024	rs_149773722	5 SubmittersRCV000222527 RCV001775676 RCV001853408 RCV002347824 RCV003997702
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)	SNV Germline	Chr6:7583324	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA046754	rs_760673242	6 SubmittersRCV000215746 RCV000641794 RCV000766953 RCV001187340 RCV000621984 RCV003997734
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)	SNV Germline	Chr6:7583704	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047699	rs_144539278	8 SubmittersRCV000219958 RCV001179802 RCV001071095 RCV003997736 RCV001729464 RCV003362730
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)	SNV Germline	Chr6:7584884	Conflicting classifications of pathogenicity	not specified Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050314	rs_142078450	9 SubmittersRCV000218025 RCV000378413 RCV000278298 RCV000814505 RCV001177077 RCV001557999 RCV005361237 RCV002390579 RCV004786567
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)	SNV Germline	Chr6:7583531	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Long QT syndrome Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047213	rs_755069593	8 SubmittersRCV000223906 RCV001524580 RCV000641824 RCV001557006 RCV003998652 RCV003318371 RCV003390975 RCV004020712
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)	SNV Germline	Chr6:7567412	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA026976	rs_141163578	6 SubmittersRCV000235358 RCV001178587 RCV001753712 RCV002429158 RCV002487105 RCV003998931
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)	SNV Germline	Chr6:7578482	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA036605	rs_772551736	4 SubmittersRCV000235509 RCV001184006 RCV002436067 RCV002503920
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)	SNV Germline	Chr6:7579702	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038290	rs_762449180	4 SubmittersRCV000236673 RCV001187147 RCV001770214 RCV004806272
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)	SNV Germline	Chr6:7579930	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10584679	rs_867067755	3 SubmittersRCV000235611 RCV003998934 RCV003278718
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)	SNV Germline	Chr6:7580860	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA042391	rs_747582734	4 SubmittersRCV000235632 RCV001764223 RCV002338776 RCV003998935
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)	SNV Germline	Chr6:7584814	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided DSP-related disorder Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified	Criteria Provided Conflicting Classifications	CA050116	rs_757394666	8 SubmittersRCV000236392 RCV001181789 RCV003144172 RCV003977702 RCV002392736 RCV003998938 RCV005404428
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)	SNV Germline	Chr6:7585281	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 not specified Cardiomyopathy DSP-related disorder	Criteria Provided Conflicting Classifications	CA051387	rs_144275591	8 SubmittersRCV000235966 RCV000248548 RCV000283622 RCV000287598 RCV000384363 RCV000424182 RCV000777797 RCV003930016
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)	SNV Germline	Chr6:7585432	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10584685	rs_879254353	3 SubmittersRCV000235256 RCV003329269 RCV002429159
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)	SNV Germline	Chr6:7580193	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10586152	rs_879255521	3 SubmittersRCV000234860 RCV002518538 RCV004992132
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)	SNV Germline	Chr6:7562721	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA048208	rs_200806163	4 SubmittersRCV000252876 RCV000549443 RCV001181619 RCV001576839
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)	SNV Germline	Chr6:7572060	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA031715	rs_773113261	7 SubmittersRCV000251355 RCV001293468 RCV001296620 RCV001582898 RCV002494789 RCV003995707 RCV003532073
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)	SNV Germline	Chr6:7580112	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA039598	rs_144641271	9 SubmittersRCV000244840 RCV000772091 RCV001041041 RCV001564859 RCV003995709 RCV002487147
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)	SNV Germline	Chr6:7579385	Pathogenic	Cardiovascular phenotype Familial isolated arrhythmogenic right ventricular dysplasia Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA10587633	rs_886039178	3 SubmittersRCV000248265 RCV002265716 RCV001229897
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)	SNV Germline	Chr6:7580067	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039408	rs_376555665	8 SubmittersRCV000254437 RCV000786302 RCV000473064 RCV001183997 RCV002479978 RCV003999027
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)	SNV Germline	Chr6:7585000	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA050590	rs_371129517	6 SubmittersRCV000483520 RCV000253165 RCV000825918 RCV001176561 RCV003995724 RCV002519003
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)	SNV Germline	Chr6:7584164	Conflicting classifications of pathogenicity	Cardiovascular phenotype 6 conditions Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA048606	rs_772381363	7 SubmittersRCV000242599 RCV000764661 RCV000786303 RCV001057375 RCV003532071 RCV003999017
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	SNV Germline	Chr6:7555815	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA10588418	rs_886039343	7 SubmittersRCV000255530 RCV000459399 RCV001000062 RCV002436088 RCV004806277 RCV005401409
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)	SNV Germline	Chr6:7576346	Conflicting classifications of pathogenicity	Left ventricular hypertrophy Sudden death Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA034624	rs_375891215	10 SubmittersRCV000678703 RCV000678704 RCV001085987 RCV000255188 RCV000766878 RCV005407001 RCV001184769 RCV002450789 RCV004806278
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)	SNV Germline	Chr6:7576964	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA035566	rs_372922674	8 SubmittersRCV000255568 RCV000620068 RCV000699886 RCV001171091 RCV002487168 RCV001705402
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)	SNV Germline	Chr6:7542051	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA027768	rs_371517189	5 SubmittersRCV000491487 RCV001181049 RCV001232032 RCV002379099 RCV003995745
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)	SNV Germline	Chr6:7579741	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038386	rs_147909031	6 SubmittersRCV000491154 RCV000769229 RCV002450792 RCV002494805 RCV002518772
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)	SNV Germline	Chr6:7585517	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051930	rs_769706539	8 SubmittersRCV000724997 RCV001236575 RCV002411147 RCV000771979 RCV003995758
NM_004415.4(DSP):c.1149A>G (p.Glu383=)	SNV Germline	Chr6:7567789	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder	Criteria Provided Conflicting Classifications	CA027087	rs_572980966	5 SubmittersRCV000295399 RCV000373493 RCV000386417 RCV001171085 RCV002058630 RCV003950272
NM_004415.4(DSP):c.2247A>G (p.Leu749=)	SNV Germline	Chr6:7574202	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA032278	rs_28763963	7 SubmittersRCV000278803 RCV000294285 RCV000374685 RCV000542933 RCV001555297 RCV000771810 RCV003235197 RCV002429320 RCV003995893
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)	SNV Germline	Chr6:7576382	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa not specified Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy 6 conditions	Criteria Provided Conflicting Classifications	CA034721	rs_749051278	6 SubmittersRCV000354548 RCV000470197 RCV000394733 RCV000757185 RCV000404899 RCV002429321 RCV001179332 RCV002488792
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)	SNV Germline	Chr6:7579791	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA038480	rs_751566392	3 SubmittersRCV000262787 RCV000295038 RCV000386997 RCV004806284 RCV002524504
NM_004415.4(DSP):c.9C>T (p.Cys3=)	SNV Germline	Chr6:7541924	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA053491	rs_769032973	4 SubmittersRCV000288181 RCV000345539 RCV000406100 RCV000620987 RCV003995889 RCV003766059
NM_004415.4(DSP):c.36C>T (p.Asn12=)	SNV Germline	Chr6:7541951	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA10624622	rs_886061744	2 SubmittersRCV000260128 RCV000357454 RCV000370214 RCV003766060
NM_004415.4(DSP):c.1469G>A (p.Arg490His)	SNV Germline	Chr6:7569235	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Woolly hair-skin fragility syndrome Epidermolysis bullosa simplex due to plakophilin deficiency Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA028300	rs_747815091	5 SubmittersRCV000262316 RCV000297782 RCV000357218 RCV000477531 RCV001184739 RCV000618799 RCV000394321 RCV003995892
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)	SNV Germline	Chr6:7571521	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided 6 conditions not specified	Criteria Provided Conflicting Classifications	CA030240	rs_764951792	6 SubmittersRCV000271772 RCV000322152 RCV000307717 RCV000686489 RCV001188878 RCV001753831 RCV002481232 RCV005404535
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)	SNV Germline	Chr6:7581473	Conflicting classifications of pathogenicity	Epidermolysis bullosa simplex due to plakophilin deficiency Arrhythmogenic right ventricular cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA044490	rs_763355815	6 SubmittersRCV000312304 RCV000288262 RCV000352546 RCV000406655 RCV000777687 RCV001443004 RCV002348109 RCV003995898
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)	SNV Germline	Chr6:7581506	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 not specified Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA044635	rs_376186141	7 SubmittersRCV000259311 RCV000360904 RCV000323845 RCV000418655 RCV001092981 RCV001187310 RCV000536757 RCV002348110
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)	SNV Germline	Chr6:7585479	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA051809	rs_755508926	5 SubmittersRCV000298299 RCV000320713 RCV000360130 RCV001805027 RCV002411251 RCV004804989 RCV002523575
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)	SNV Germline	Chr6:7574736	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA032987	rs_755067397	6 SubmittersRCV000266242 RCV000395566 RCV000364453 RCV001178102 RCV000460397 RCV002450930 RCV003995894 RCV005222908
NM_004415.4(DSP):c.2878-4G>A	SNV Germline	Chr6:7577775	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA036027	rs_758303966	3 SubmittersRCV000270858 RCV000315413 RCV000370075 RCV003766061 RCV003995895
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)	SNV Germline	Chr6:7579336	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA037298	rs_751361395	7 SubmittersRCV000272182 RCV000322535 RCV000379457 RCV000470079 RCV002323559 RCV000485378 RCV001190426 RCV003995896 RCV002480238
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)	SNV Germline	Chr6:7579337	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA037319	rs_756341143	9 SubmittersRCV000316681 RCV000287261 RCV000373529 RCV001529159 RCV001187914 RCV002323560 RCV000867540 RCV003995897
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)	SNV Germline	Chr6:7582855	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA045279	rs_562015789	8 SubmittersRCV000268654 RCV000272334 RCV000308765 RCV000481903 RCV001084945 RCV003902393 RCV000771806 RCV003995899 RCV002348111
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)	SNV Germline	Chr6:7583300	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 not specified Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA046661	rs_557263443	7 SubmittersRCV000308156 RCV000362870 RCV000404049 RCV000777689 RCV000463580 RCV003330653 RCV002356488 RCV005431642
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)	SNV Germline	Chr6:7584197	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA10627574	rs_886061748	6 SubmittersRCV000265357 RCV000327523 RCV000358408 RCV001304434 RCV005434871 RCV003150192 RCV003995900
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)	SNV Germline	Chr6:7585145	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA051060	rs_147484870	5 SubmittersRCV000277919 RCV000370195 RCV000402482 RCV000777728 RCV002411250 RCV000521787 RCV001403630
NM_004415.4(DSP):c.727-11T>C	SNV Germline	Chr6:7563725	Conflicting classifications of pathogenicity	Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA10627591	rs_886061745	2 SubmittersRCV000268002 RCV000320821 RCV000326376 RCV003995890
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)	SNV Germline	Chr6:7580563	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA041197	rs_370063434	4 SubmittersRCV000270456 RCV000362744 RCV000366411 RCV000559827 RCV001188675 RCV002328873
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)	SNV Germline	Chr6:7581254	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA10627595	rs_886061747	4 SubmittersRCV000302895 RCV000308692 RCV000403958 RCV001187917 RCV003168550 RCV001406840
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)	SNV Germline	Chr6:7581407	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA044245	rs_748263306	4 SubmittersRCV000285785 RCV000322110 RCV000371866 RCV001406357 RCV001188877 RCV002348108
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)	SNV Germline	Chr6:7583082	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA3628100	rs_763026647	2 SubmittersRCV000280697 RCV000371937 RCV000375397 RCV002058631
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)	SNV Germline	Chr6:7584230	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA10627604	rs_777901747	4 SubmittersRCV000287663 RCV000387631 RCV000384308 RCV002524505 RCV003298411 RCV004806285
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)	SNV Germline	Chr6:7585769	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA052621	rs_764232504	3 SubmittersRCV000281481 RCV000280318 RCV000375466 RCV002524506 RCV004992184
NM_004415.4(DSP):c.1853A>C (p.His618Pro)	SNV Germline	Chr6:7571534	Likely pathogenic	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362679550	rs_1554107096	2 SubmittersRCV000412632 RCV003766143
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro)	SNV Germline	Chr6:7571546	Pathogenic	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362679638	rs_1554107098	2 SubmittersRCV000412530 RCV005222913
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)	SNV Germline	Chr6:7559282	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 not specified Ventricular tachycardia Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA042921	rs_752941845	6 SubmittersRCV000473264 RCV000414584 RCV000852567 RCV001191134 RCV003995925 RCV004992196
NM_004415.4(DSP):c.2437-1G>C	SNV Germline	Chr6:7575294	Likely pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA16042651	rs_1057517903	7 SubmittersRCV000413527 RCV002251476 RCV003532093 RCV000823724 RCV000825635 RCV002450951 RCV003995916
NM_004415.4(DSP):c.2436+2T>C	SNV Germline	Chr6:7574797	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA033304	rs_774514264	8 SubmittersRCV000420343 RCV000611197 RCV001058578 RCV003486838 RCV004992210 RCV004000501 RCV004556786
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)	SNV Germline	Chr6:7577023	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA035758	rs_745641212	7 SubmittersRCV000418326 RCV001191136 RCV002436353 RCV002488974 RCV002522666 RCV003483614 RCV004000569
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)	SNV Germline	Chr6:7581363	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA044067	rs_200336897	7 SubmittersRCV000440169 RCV000472043 RCV001187374 RCV005056004 RCV003168704 RCV004000582
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)	SNV Germline	Chr6:7583714	Conflicting classifications of pathogenicity	Condition: not provided not specified 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047734	rs_367759510	7 SubmittersRCV000419283 RCV001823728 RCV002480284 RCV003995955 RCV000802736 RCV001188897 RCV002365468
NM_004415.4(DSP):c.2023A>G (p.Ile675Val)	SNV Germline	Chr6:7571961	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA031307	rs_142619902	4 SubmittersRCV000441234 RCV000558387 RCV005328262 RCV003996030
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)	SNV Germline	Chr6:7580055	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA039350	rs_778178956	5 SubmittersRCV000435304 RCV000617648 RCV000811101 RCV004000483 RCV004556785
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)	SNV Germline	Chr6:7542038	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA16605117	rs_1057523045	4 SubmittersRCV000429494 RCV001387593 RCV002374692 RCV003532114
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)	SNV Germline	Chr6:7562746	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA048648	rs_770210088	5 SubmittersRCV000423839 RCV000526876 RCV000771993 RCV002374672
NM_004415.4(DSP):c.961G>C (p.Val321Leu)	SNV Germline	Chr6:7566398	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA053369	rs_143994626	5 SubmittersRCV000426226 RCV000704787 RCV003532118 RCV002379384 RCV004000565
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)	SNV Germline	Chr6:7566404	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA16605123	rs_1057522287	5 SubmittersRCV000434123 RCV000542223 RCV002374673 RCV004000430
NM_004415.4(DSP):c.2297+1G>A	SNV Germline	Chr6:7574253	Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA16605140	rs_1057523629	2 SubmittersRCV000441801 RCV005222937
NM_004415.4(DSP):c.2631-5C>T	SNV Germline	Chr6:7576289	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA034444	rs_773772683	6 SubmittersRCV000641848 RCV001721356 RCV001179850 RCV002429422 RCV003897911 RCV004000497
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)	SNV Germline	Chr6:7582676	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA045013	rs_768161038	3 SubmittersRCV000424004 RCV001042347 RCV003532110
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)	SNV Germline	Chr6:7583066	Conflicting classifications of pathogenicity	Condition: not provided DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA045770	rs_777048976	4 SubmittersRCV000433081 RCV003960011 RCV004000593 RCV002525516
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)	SNV Germline	Chr6:7584301	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Lethal acantholytic epidermolysis bullosa Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA049017	rs_768837509	5 SubmittersRCV000455596 RCV001177917 RCV001361500 RCV004000601 RCV005004161
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)	SNV Germline	Chr6:7569328	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA028703	rs_748790273	6 SubmittersRCV000457295 RCV000786125 RCV001159661 RCV001159662 RCV001161048 RCV001184030 RCV004000636
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)	SNV Germline	Chr6:7585744	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype 6 conditions not specified	Criteria Provided Conflicting Classifications	CA052478	rs_369682599	6 SubmittersRCV000462591 RCV001183502 RCV004000646 RCV002446779 RCV002481386 RCV004701491
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)	SNV Germline	Chr6:7571975	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA031402	rs_151049942	6 SubmittersRCV000457923 RCV000588384 RCV001524121 RCV002418355 RCV005235296
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter)	SNV Germline	Chr6:7575460	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA16612029	rs_1060500618	1 SubmittersRCV000460155 RCV005208708
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	SNV Germline	Chr6:7579527	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Long QT syndrome 1 Cardiomyopathy Cardiovascular phenotype DSP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16612031	rs_746877365	10 SubmittersRCV000521134 RCV000475216 RCV000589386 RCV001186299 RCV002323682 RCV004529584
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)	SNV Germline	Chr6:7580236	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039976	rs_144465638	5 SubmittersRCV000461903 RCV001188143 RCV005328272 RCV002481385 RCV004000638
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)	SNV Germline	Chr6:7581012	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA16612040	rs_1060500610	4 SubmittersRCV001388391 RCV000786116 RCV002339123 RCV005401443
NM_004415.4(DSP):c.1420-1G>T	SNV Germline	Chr6:7569185	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA16612070	rs_1060500609	1 SubmittersRCV001377406
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)	SNV Germline	Chr6:7583194	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA046085	rs_770077556	4 SubmittersRCV000465768 RCV001188150 RCV002356648 RCV004000650
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)	SNV Germline	Chr6:7585177	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA051144	rs_771553674	7 SubmittersRCV000461737 RCV000786122 RCV001524816 RCV004000641 RCV002480359 RCV005235295
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)	SNV Germline	Chr6:7585786	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Brugada syndrome 1	Criteria Provided Conflicting Classifications	CA16612075	rs_144850908	6 SubmittersRCV000467147 RCV001183507 RCV002244929 RCV005562360 RCV004000645 RCV004577523
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)	SNV Germline	Chr6:7577834	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16612198	rs_1060500615	6 SubmittersRCV000470333 RCV001177371 RCV000786305 RCV003380568
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)	SNV Germline	Chr6:7579720	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038306	rs_770489625	2 SubmittersRCV000477514 RCV004000637
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)	SNV Germline	Chr6:7580755	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Ventricular tachycardia Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype DSP-related disorder not specified	Criteria Provided Conflicting Classifications	CA041962	rs_375150075	10 SubmittersRCV000462984 RCV000852575 RCV001729600 RCV001188144 RCV004000639 RCV002339122 RCV003942471 RCV005235294
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)	SNV Germline	Chr6:7542022	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA026931	rs_778506459	6 SubmittersRCV000486571 RCV001176566 RCV001207737 RCV002420230 RCV004003348 RCV005407143
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)	SNV Germline	Chr6:7565375	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16618313	rs_1064796438	4 SubmittersRCV000484781 RCV000543557 RCV001176563 RCV002420241
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)	SNV Germline	Chr6:7574242	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA16618321	rs_1064794463	3 SubmittersRCV000483192 RCV001180111 RCV002526576
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)	SNV Germline	Chr6:7580026	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039173	rs_753270443	6 SubmittersRCV000482301 RCV001187855 RCV002367625 RCV001219231 RCV002481501 RCV004002258
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)	SNV Germline	Chr6:7583495	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047127	rs_377035113	7 SubmittersRCV000484114 RCV001180114 RCV001219465 RCV002481540 RCV003993981 RCV004003407 RCV003168984
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)	SNV Germline	Chr6:7583759	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA047861	rs_771692503	5 SubmittersRCV000479255 RCV000796935 RCV003532144 RCV004003410 RCV005355972
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)	SNV Germline	Chr6:7584997	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA050579	rs_750744914	3 SubmittersRCV000478071 RCV001294743 RCV001525735
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter)	SNV Germline	Chr6:7585276	Pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA16618328	rs_1064793890	2 SubmittersRCV000483057 RCV002526544
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter)	SNV Germline	Chr6:7579506	Pathogenic/Likely pathogenic	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA362683656	rs_1131691673	3 SubmittersRCV000493174 RCV003532145 RCV005222970
NM_004415.4(DSP):c.423-1G>T	SNV Germline	Chr6:7559225	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA362671945	rs_1304410089	3 SubmittersRCV000497916 RCV000621858 RCV001851377
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)	SNV Germline	Chr6:7568493	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA133956074	rs_1037212969	6 SubmittersRCV000498264 RCV000641782 RCV002383958 RCV002481588 RCV003532148 RCV004003504
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)	SNV Germline	Chr6:7580886	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA042525	rs_201785897	8 SubmittersRCV000498070 RCV000792630 RCV001185498 RCV001262576 RCV002341176 RCV004003506
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)	SNV Germline	Chr6:7584903	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA362693462	rs_1464253797	6 SubmittersRCV000498154 RCV002395202 RCV002496907 RCV003766793 RCV004003498 RCV003532146
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)	SNV Germline	Chr6:7542021	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362675834	rs_1395509692	5 SubmittersRCV000520598 RCV000621177 RCV001185065 RCV000806208 RCV004003614
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	SNV Germline/somatic	Chr6:7542052	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Cardiomyopathy Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA027812	rs_140403872	9 SubmittersRCV000522871 RCV000764657 RCV001170909 RCV001375634 RCV001212813 RCV002384015 RCV003403239 RCV004003635
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	SNV Germline	Chr6:7555797	Pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA033690	rs_768521444	3 SubmittersRCV000522261 RCV001041380 RCV002431486
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)	SNV Germline	Chr6:7566434	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA053443	rs_773685575	5 SubmittersRCV000522825 RCV000704271 RCV002384013 RCV002506277 RCV004806389
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)	SNV Germline	Chr6:7574243	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Keratosis palmoplantaris striata 2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA032403	rs_113967308	5 SubmittersRCV000519543 RCV001088334 RCV001189163 RCV002448575 RCV005407678
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)	SNV Germline	Chr6:7580464	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA040954	rs_577560157	5 SubmittersRCV000521599 RCV001185067 RCV002525196 RCV003302759
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)	SNV Germline	Chr6:7581252	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy Keratosis palmoplantaris striata 2 Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA043810	rs_757753880	7 SubmittersRCV000520322 RCV000796190 RCV001163265 RCV001189164 RCV001198030 RCV001163264 RCV001163266 RCV002341225
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)	SNV Germline	Chr6:7575301	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA033510	rs_774638728	4 SubmittersRCV000535925 RCV001524033 RCV002456129 RCV003999167
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)	SNV Germline	Chr6:7579528	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA037833	rs_768455823	5 SubmittersRCV000531336 RCV000786120 RCV001165021 RCV001165020 RCV001165022 RCV001177349 RCV002323974
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)	SNV Germline	Chr6:7583607	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA047362	rs_766950975	4 SubmittersRCV000545660 RCV001565051 RCV002367853 RCV003330771
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)	SNV Germline	Chr6:7585072	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA362693825	rs_1301635888	4 SubmittersRCV000529574 RCV001190481 RCV002483422 RCV003238768
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)	SNV Germline	Chr6:7541976	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA047042	rs_747956457	5 SubmittersRCV000530910 RCV000619337 RCV001177348 RCV002253507 RCV003999175
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)	SNV Germline	Chr6:7579323	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Cardiac arrhythmia Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA362683067	rs_1554108012	6 SubmittersRCV000527367 RCV000610239 RCV001841483 RCV001843952 RCV002298657 RCV002323972
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)	SNV Germline	Chr6:7580102	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039532	rs_764189408	4 SubmittersRCV000530405 RCV001180817 RCV003352914 RCV003999171
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly)	SNV Germline	Chr6:7566471	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA026696	rs_753855393	4 SubmittersRCV000541681 RCV000786124 RCV001179633
NM_004415.4(DSP):c.2482A>G (p.Met828Val)	SNV Germline	Chr6:7575340	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362681432	rs_1338201926	3 SubmittersRCV000550815 RCV003999168 RCV005328308
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter)	SNV Germline	Chr6:7579538	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362683756	rs_772646601	1 SubmittersRCV000540439
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)	SNV Germline	Chr6:7583056	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA045687	rs_748825632	6 SubmittersRCV000542834 RCV001177353 RCV001811049 RCV002358509 RCV003999173
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)	SNV Germline	Chr6:7585346	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA051499	rs_764994940	5 SubmittersRCV000558240 RCV001179784 RCV003159826 RCV003999177 RCV004592576
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)	SNV Germline	Chr6:7577833	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2	Criteria Provided Conflicting Classifications	CA036179	rs_780823789	5 SubmittersRCV000553791 RCV001524621 RCV003159824 RCV005407715
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)	SNV Germline	Chr6:7580656	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA041614	rs_746782582	7 SubmittersRCV000533748 RCV000780217 RCV000770245 RCV001547456 RCV002330885 RCV003999172
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)	SNV Germline	Chr6:7583272	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype not specified Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA046586	rs_764692193	5 SubmittersRCV000546727 RCV000621387 RCV000825753 RCV001181858 RCV001547589
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)	SNV Germline	Chr6:7579944	Conflicting classifications of pathogenicity	Wolff-Parkinson-White pattern Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA362684784	rs_1262533485	4 SubmittersRCV000656187 RCV001176898 RCV001349053 RCV001560456
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)	SNV Germline	Chr6:7579431	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA362683382	rs_1554108050	3 SubmittersRCV000578715 RCV000689303 RCV005044861
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	SNV Germline	Chr6:7581189	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiovascular phenotype DSP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA362687617	rs_1554108431	6 SubmittersRCV000578658 RCV000612029 RCV000692483 RCV001332446 RCV004992364 RCV005231113
NM_004415.4(DSP):c.946A>G (p.Met316Val)	SNV Germline	Chr6:7566383	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy not specified Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA053338	rs_201672777	5 SubmittersRCV000795477 RCV001188903 RCV003330810 RCV002377217 RCV002497238
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)	SNV Germline	Chr6:7582674	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA044990	rs_779809935	4 SubmittersRCV000586786 RCV000641780 RCV004002436 RCV004992369
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)	SNV Germline	Chr6:7542078	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA362676038	rs_1214660308	3 SubmittersRCV001178827 RCV000587980 RCV002530932
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)	SNV Germline	Chr6:7583828	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA048005	rs_766933370	6 SubmittersRCV001178829 RCV000588624 RCV002367993 RCV000707496 RCV004002438
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)	SNV Germline	Chr6:7585379	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051545	rs_537588390	9 SubmittersRCV000587494 RCV000678706 RCV000772488 RCV000804647 RCV002497237 RCV003159999 RCV004002439
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)	SNV Germline	Chr6:7565500	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362674648	rs_1238227166	3 SubmittersRCV000607926 RCV003767745 RCV005409685
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)	SNV Germline	Chr6:7580146	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039644	rs_138599871	8 SubmittersRCV000609863 RCV001181555 RCV001561478 RCV002358668 RCV001309715 RCV002498881 RCV004002475
NM_004415.4(DSP):c.8553C>T (p.Asp2851=)	SNV Germline	Chr6:7585815	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA448531292	rs_1554109307	3 SubmittersRCV000606781 RCV001441035 RCV004002484
NM_004415.4(DSP):c.1575-15C>G	SNV Germline	Chr6:7570422	Conflicting classifications of pathogenicity	Woolly hair-skin fragility syndrome Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 not specified Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA028898	rs_369184165	8 SubmittersRCV001161052 RCV001176071 RCV001161054 RCV000610554 RCV001161053 RCV004002602 RCV001726265 RCV002066669
NM_004415.4(DSP):c.3954G>A (p.Lys1318=)	SNV Germline	Chr6:7580144	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype DSP-related disorder	Criteria Provided Conflicting Classifications	CA133969022	rs_866656949	6 SubmittersRCV000607622 RCV001430429 RCV003150305 RCV004002567 RCV002358719 RCV003892358
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)	SNV Germline	Chr6:7542061	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362675961	rs_151153655	3 SubmittersRCV000618303 RCV001206891 RCV004002703
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)	SNV Germline/somatic	Chr6:7558186	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038108	rs_28763958	7 SubmittersRCV000811284 RCV000620647 RCV001187550 RCV001375635 RCV000998518 RCV004002664
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr6:7567396	Pathogenic	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA362675621	rs_778856526	2 SubmittersRCV000619279 RCV001385606
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)	SNV Germline	Chr6:7567820	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA027175	rs_769054351	2 SubmittersRCV000621411 RCV003767787
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)	SNV Germline	Chr6:7571538	Pathogenic	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA362679583	rs_1554107097	2 SubmittersRCV000619054 RCV003767782
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)	SNV Germline	Chr6:7574114	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362680697	rs_1261146655	2 SubmittersRCV000619377 RCV001296559
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)	SNV Germline	Chr6:7579292	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma DSP-related disorder	Criteria Provided Conflicting Classifications	CA037136	rs_569974617	10 SubmittersRCV000772648 RCV001256840 RCV000617502 RCV000868535 RCV001161398 RCV001161399 RCV001161400 RCV002225686 RCV004002648 RCV003892393
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)	SNV Germline	Chr6:7580095	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039514	rs_760691999	5 SubmittersRCV001035533 RCV000619379 RCV001181382 RCV001194042 RCV004807037
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)	SNV Germline	Chr6:7581475	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA044513	rs_751849031	6 SubmittersRCV000620319 RCV002225689 RCV001855272 RCV002499003 RCV003532206 RCV004002710
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)	SNV Germline	Chr6:7582645	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA044883	rs_764279057	4 SubmittersRCV000621473 RCV001190257 RCV001304150 RCV004002656
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)	SNV Germline	Chr6:7583449	Conflicting classifications of pathogenicity	Cardiovascular phenotype 6 conditions Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA046989	rs_374090050	4 SubmittersRCV000621909 RCV002477355 RCV003106001 RCV004002704
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)	SNV Germline	Chr6:7585256	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy 6 conditions Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051292	rs_151309106	9 SubmittersRCV000622066 RCV000699495 RCV001181546 RCV002483708 RCV001529017 RCV004002666
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)	SNV Germline	Chr6:7585471	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051765	rs_149123428	3 SubmittersRCV000622023 RCV001860358 RCV004002642
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)	SNV Germline	Chr6:7585543	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA133977666	rs_376751288	4 SubmittersRCV000641806 RCV000621798 RCV001190260 RCV004002646
NM_004415.4(DSP):c.249G>A (p.Met83Ile)	SNV Germline	Chr6:7555796	Conflicting classifications of pathogenicity	Primary familial dilated cardiomyopathy Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362670845	rs_1426930663	7 SubmittersRCV000623911 RCV001181568 RCV001584447 RCV002531870 RCV003162761 RCV004002744
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)	SNV Germline	Chr6:7585571	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA052047	rs_371020228	5 SubmittersRCV000796620 RCV001185277 RCV002259357 RCV002431833
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)	SNV Germline	Chr6:7579983	Pathogenic/Likely pathogenic	Right ventricular cardiomyopathy Ventricular arrhythmia Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA362684869	rs_1554108172	3 SubmittersRCV000626865 RCV001389691 RCV004002759
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)	SNV Germline	Chr6:7580487	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA362685996	rs_1554108283	4 SubmittersRCV000627293 RCV001332445
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)	SNV Germline	Chr6:7583713	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided Cardiovascular phenotype Keratosis palmoplantaris striata 2	Criteria Provided Conflicting Classifications	CA047718	rs_181608152	8 SubmittersRCV000641783 RCV004003927 RCV001524939 RCV001766380 RCV004992432 RCV005407834
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)	SNV Germline	Chr6:7583788	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362690983	rs_746533703	4 SubmittersRCV000641795 RCV002493001 RCV004003932 RCV004992433
NM_004415.4(DSP):c.2793+1G>T	SNV Germline	Chr6:7576457	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362682147	rs_1554107741	2 SubmittersRCV000641774 RCV005422900
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)	SNV Germline	Chr6:7578483	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA036622	rs_371234425	4 SubmittersRCV000641807 RCV001183056 RCV003162891 RCV004003935
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)	SNV Germline	Chr6:7579896	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038794	rs_377098318	6 SubmittersRCV000641769 RCV000786121 RCV001181540 RCV002358822 RCV004807062
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)	SNV Germline	Chr6:7566413	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA133955206	rs_117961973	4 SubmittersRCV000641800 RCV002499078 RCV004692007 RCV005401546
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)	SNV Germline	Chr6:7572009	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362680493	rs_1363445022	6 SubmittersRCV000641817 RCV001159761 RCV001159762 RCV000786306 RCV001159763 RCV003532219 RCV004003938 RCV004025628
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)	SNV Germline	Chr6:7574719	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA032952	rs_778350289	6 SubmittersRCV000641805 RCV001186671 RCV001164787 RCV001164786 RCV001164788 RCV002282281 RCV004003934 RCV005328342
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)	SNV Germline	Chr6:7580493	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy not specified Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA041029	rs_751972271	5 SubmittersRCV000641773 RCV001180336 RCV001175481 RCV001771873 RCV002492999
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)	SNV Germline	Chr6:7580562	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Myocarditis Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA041182	rs_28763965	6 SubmittersRCV000641778 RCV000852574 RCV002060746 RCV002331174 RCV004003925 RCV005603645
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)	SNV Germline	Chr6:7579513	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA037774	rs_771948271	2 SubmittersRCV000641816 RCV002325252
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)	SNV Germline	Chr6:7580748	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA041946	rs_780953141	6 SubmittersRCV000641818 RCV000770248 RCV003322801 RCV003372782 RCV004003939
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)	SNV Germline	Chr6:7581459	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362688224	rs_1554108477	3 SubmittersRCV000641766 RCV000850013 RCV003144420
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)	SNV Germline	Chr6:7579964	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038986	rs_748733750	6 SubmittersRCV000641793 RCV001183054 RCV001811134 RCV002343279 RCV004003931
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)	SNV Germline	Chr6:7580585	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA362686215	rs_1236464864	4 SubmittersRCV000641777 RCV000850012 RCV004556807 RCV004807063
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)	SNV Germline	Chr6:7580595	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA041355	rs_752121953	5 SubmittersRCV000641811 RCV000845428 RCV002331175 RCV003532218
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)	SNV Germline	Chr6:7582911	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA045415	rs_760974941	5 SubmittersRCV000641853 RCV001158746 RCV001158745 RCV001158747 RCV001180340 RCV002343280 RCV005235456
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)	SNV Germline	Chr6:7583827	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047999	rs_767661570	8 SubmittersRCV000641803 RCV001183055 RCV001701426 RCV004003933 RCV005235455
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)	SNV Germline	Chr6:7584727	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA049907	rs_760552749	4 SubmittersRCV000641820 RCV000756046 RCV001183058 RCV002388081
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)	SNV Germline	Chr6:7585663	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA052220	rs_760215987	6 SubmittersRCV000641789 RCV001180337 RCV002449013 RCV002477412 RCV004003930 RCV005409698
NM_004415.4(DSP):c.1267-2A>G	SNV Germline	Chr6:7568435	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362676275	rs_1554106830	2 SubmittersRCV000641810 RCV002449014
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)	SNV Germline	Chr6:7577842	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA036196	rs_747580402	4 SubmittersRCV000641821 RCV001180338 RCV002440287 RCV002477413
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)	SNV Germline	Chr6:7583980	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA048279	rs_374262024	5 SubmittersRCV000641801 RCV001181541 RCV002360570 RCV002483830 RCV004588066
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)	SNV Germline	Chr6:7566477	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA026704	rs_757208743	5 SubmittersRCV000658318 RCV001855372 RCV002388164 RCV004004189 RCV002485497
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)	SNV Germline	Chr6:7559287	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA043082	rs_760711308	6 SubmittersRCV000659044 RCV001189450 RCV001297349 RCV002334222 RCV002485501 RCV004004195
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)	SNV Germline	Chr6:7558227	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy not specified 6 conditions Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039256	rs_777763456	8 SubmittersRCV000699483 RCV001191351 RCV001192669 RCV002493218 RCV003144547 RCV003303172 RCV003999693
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)	SNV Germline	Chr6:7572013	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362680500	rs_1561690890	4 SubmittersRCV000696395 RCV002493206 RCV003999656 RCV004026377
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)	SNV Germline	Chr6:7580209	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA039857	rs_765247380	4 SubmittersRCV000689850 RCV003999537 RCV003532231 RCV004588112
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter)	SNV Germline	Chr6:7580547	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Single Submitter	CA362686129	rs_1561698750	1 SubmittersRCV000698502
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)	SNV Germline	Chr6:7580577	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA133969665	rs_948230523	4 SubmittersRCV000691670 RCV002332430 RCV001183077 RCV005603652
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)	SNV Germline	Chr6:7583221	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA046150	rs_759443302	6 SubmittersRCV000694629 RCV001191951 RCV003999620 RCV002477576 RCV004025209 RCV005622007
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)	SNV Germline	Chr6:7558149	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA036841	rs_375028675	3 SubmittersRCV000696670 RCV002319558 RCV003999661
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter)	SNV Germline	Chr6:7570444	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA362677994	rs_1267435790	2 SubmittersRCV000702553 RCV004993971
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)	SNV Germline	Chr6:7574667	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362681039	rs_1225927424	5 SubmittersRCV000703899 RCV001805819 RCV001766550 RCV002442525 RCV003999745
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)	SNV Germline	Chr6:7576352	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA133964080	rs_1008407158	5 SubmittersRCV000696549 RCV002424664 RCV003999659 RCV002507214 RCV005407896
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)	SNV Germline	Chr6:7579950	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA038929	rs_778448699	4 SubmittersRCV000705333 RCV001184094 RCV002343560 RCV003999766
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)	SNV Germline	Chr6:7582960	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA045575	rs_751447598	2 SubmittersRCV000701988 RCV005562443
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)	SNV Germline	Chr6:7583101	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA045899	rs_767259019	4 SubmittersRCV000687198 RCV002352121 RCV002493150 RCV004004261
NM_004415.4(DSP):c.778-2A>G	SNV Germline	Chr6:7565357	Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA362673884	rs_113726158	3 SubmittersRCV000705542 RCV004017722 RCV003362918
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)	SNV Germline	Chr6:7567376	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA026911	rs_780626687	5 SubmittersRCV000685025 RCV001191638 RCV002406528 RCV004004225 RCV002485584
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)	SNV Germline	Chr6:7569330	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362677850	rs_1230995902	4 SubmittersRCV000700728 RCV002493224 RCV002397447 RCV003999708
NM_004415.4(DSP):c.2675G>A (p.Arg892His)	SNV Germline	Chr6:7576338	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA034580	rs_758592774	5 SubmittersRCV000685917 RCV000781335 RCV001771932 RCV001186262 RCV004026217
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)	SNV Germline	Chr6:7576388	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA362681990	rs_1561694696	2 SubmittersRCV000700355 RCV001192197
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)	SNV Germline	Chr6:7580307	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Condition: not provided 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA040186	rs_200745877	7 SubmittersRCV000685855 RCV001158421 RCV000773962 RCV002325354 RCV001158422 RCV001158423 RCV003314636 RCV002499217 RCV004004238
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)	SNV Germline	Chr6:7581209	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA043654	rs_773113214	3 SubmittersRCV000691358 RCV003532234 RCV003999558
NM_004415.4(DSP):c.634G>A (p.Ala212Thr)	SNV Germline	Chr6:7562688	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA133953220	rs_1028793473	2 SubmittersRCV000693898 RCV003999606
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)	SNV Germline	Chr6:7562718	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362673511	rs_1233981969	5 SubmittersRCV000690435 RCV001183071 RCV003999542 RCV002499226 RCV004025051
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)	SNV Germline	Chr6:7562719	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA048165	rs_377749481	3 SubmittersRCV000707300 RCV001188196 RCV003165932
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)	SNV Germline	Chr6:7575355	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy	Criteria Provided Single Submitter	CA362681468	rs_1561693779	2 SubmittersRCV000694169 RCV002532254
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)	SNV Germline	Chr6:7580212	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided Cardiomyopathy Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039887	rs_112242645	6 SubmittersRCV000686257 RCV001561798 RCV001191644 RCV002352116 RCV002485599 RCV004004247
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)	SNV Germline	Chr6:7583374	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA046904	rs_185846631	5 SubmittersRCV000700596 RCV001262575 RCV003380689 RCV003999706 RCV003532244
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)	SNV Germline	Chr6:7584301	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA049007	rs_768837509	4 SubmittersRCV000694395 RCV001258161 RCV003999614 RCV004619390
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter)	SNV Germline	Chr6:7584502	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Single Submitter	CA362692555	rs_1194358112	1 SubmittersRCV000703375
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)	SNV Germline	Chr6:7559287	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA043095	rs_760711308	5 SubmittersRCV000757186 RCV001181911 RCV001855890 RCV003166010 RCV003999893
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)	SNV Germline	Chr6:7584328	Pathogenic/Likely pathogenic	Condition: not provided 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Familial isolated arrhythmogenic right ventricular dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA362692159	rs_1561703331	4 SubmittersRCV000760791 RCV002493387 RCV003768287 RCV003117545
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)	SNV Germline	Chr6:7567902	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Cardiovascular phenotype DSP-related disorder	Criteria Provided Conflicting Classifications	CA027307	rs_763523373	7 SubmittersRCV000770233 RCV003999933 RCV001869067 RCV002493404 RCV005328386 RCV004751696
NM_004415.4(DSP):c.2423G>A (p.Arg808His)	SNV Germline	Chr6:7574782	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA033170	rs_372906646	5 SubmittersRCV000769219 RCV000808893 RCV001759449 RCV002485982
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)	SNV Germline	Chr6:7579472	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA037679	rs_2491080	5 SubmittersRCV000769226 RCV001500091 RCV002325464 RCV003999921
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)	SNV Germline	Chr6:7579740	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA038373	rs_761331634	8 SubmittersRCV000769228 RCV001869065 RCV002493401 RCV002271582 RCV003279049 RCV003999922 RCV005231313
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)	SNV Germline	Chr6:7580389	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA133969385	rs_748109826	6 SubmittersRCV000770239 RCV001046792 RCV002332549 RCV002493405 RCV003999934
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)	SNV Germline	Chr6:7583509	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA047157	rs_370093129	7 SubmittersRCV000769236 RCV000781334 RCV001240930 RCV002360875 RCV002485983 RCV003999923
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)	SNV Germline	Chr6:7584446	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA049268	rs_777930834	4 SubmittersRCV000769240 RCV001855980 RCV002370029 RCV004807127
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)	SNV Germline	Chr6:7585540	Conflicting classifications of pathogenicity	Cardiomyopathy Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133977650	rs_991726607	6 SubmittersRCV000769244 RCV001159055 RCV001055338 RCV001163979 RCV001163980 RCV003303238
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)	SNV Germline	Chr6:7541961	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA042548	rs_754773488	2 SubmittersRCV000774426 RCV003768377
NM_004415.4(DSP):c.485G>A (p.Arg162His)	SNV Germline	Chr6:7559288	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA043135	rs_397516944	7 SubmittersRCV000772776 RCV001856027 RCV002500998 RCV001561617 RCV002334436 RCV003999983
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)	SNV Germline	Chr6:7566402	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA053377	rs_757098196	3 SubmittersRCV000772513 RCV001856018 RCV003307405
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	SNV Germline	Chr6:7568494	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA027687	rs_755492444	6 SubmittersRCV000774106 RCV003227859 RCV002501004 RCV003768364 RCV004027264 RCV004807145
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)	SNV Germline	Chr6:7571498	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA030133	rs_576661499	4 SubmittersRCV000774356 RCV003144583 RCV001873143 RCV004001390
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)	SNV Germline	Chr6:7574139	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA032115	rs_750383681	2 SubmittersRCV000774158 RCV001043553
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)	SNV Germline	Chr6:7580053	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA039305	rs_746482538	5 SubmittersRCV000774096 RCV002534115 RCV002487583 RCV004001350 RCV004027263
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)	SNV Germline	Chr6:7580208	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039846	rs_768628788	7 SubmittersRCV000771506 RCV001092980 RCV001346812 RCV002352280 RCV003999956
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)	SNV Germline	Chr6:7580611	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA041457	rs_756456881	3 SubmittersRCV000774287 RCV002332553 RCV003768372
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)	SNV Germline	Chr6:7580800	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA042110	rs_762135558	5 SubmittersRCV000773624 RCV002265878 RCV004000028 RCV003307407 RCV002536656
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)	SNV Germline	Chr6:7582856	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA045299	rs_780714982	4 SubmittersRCV000774465 RCV001856088 RCV004822191 RCV005562454
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)	SNV Germline	Chr6:7583449	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA047006	rs_374090050	5 SubmittersRCV000773340 RCV003166042 RCV004000003 RCV002501000 RCV002534057
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)	SNV Germline	Chr6:7585109	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA050952	rs_571577908	4 SubmittersRCV000774259 RCV003768370 RCV003166049 RCV004001375
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)	SNV Germline	Chr6:7585138	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA051049	rs_144821643	3 SubmittersRCV000772824 RCV001850968 RCV003166041
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)	SNV Germline	Chr6:7585562	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362694866	rs_34884895	4 SubmittersRCV000774054 RCV001159057 RCV001159058 RCV001159056 RCV001053186 RCV002424766
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)	SNV Germline	Chr6:7585739	Conflicting classifications of pathogenicity	Cardiomyopathy Primary dilated cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA052461	rs_548754771	5 SubmittersRCV000774192 RCV000852577 RCV001856082 RCV002442584
NM_004415.4(DSP):c.1266+6G>A	SNV Germline	Chr6:7567912	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder not specified	Criteria Provided Conflicting Classifications	CA027341	rs_73375345	5 SubmittersRCV000774527 RCV001873146 RCV003908083 RCV005235480
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)	SNV Germline	Chr6:7571506	Pathogenic/Likely pathogenic	Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA362679366	rs_1561690319	2 SubmittersRCV000780213 RCV001381891
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)	SNV Germline	Chr6:7584845	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA050178	rs_746932951	5 SubmittersRCV000780212 RCV001170146 RCV004027315 RCV002535669 RCV004001513
NM_004415.4(DSP):c.2878-3C>T	SNV Germline	Chr6:7577776	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA915944147	rs_1581813359	3 SubmittersRCV000788411 RCV004001548 RCV003353022
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	SNV Germline	Chr6:7541953	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA039453	rs_201133637	4 SubmittersRCV000799976 RCV001176100 RCV002507384 RCV004001632
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)	SNV Germline	Chr6:7541970	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362675607	rs_777340009	5 SubmittersRCV000794965 RCV000841345 RCV001805863 RCV003166125 RCV004001594
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)	SNV Germline	Chr6:7555798	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA033711	rs_373736975	4 SubmittersRCV000793805 RCV001191571 RCV002424798 RCV004001580
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)	SNV Germline	Chr6:7559326	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362672544	rs_1581794029	3 SubmittersRCV000826163 RCV000807937 RCV001805879
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)	SNV Germline	Chr6:7562722	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA048240	rs_199509943	5 SubmittersRCV000817744 RCV001566350 RCV003307537 RCV001189307 RCV004001807
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)	SNV Germline	Chr6:7569334	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362677868	rs_1276338018	3 SubmittersRCV000794903 RCV002397584 RCV004807177
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)	SNV Germline	Chr6:7571396	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA029767	rs_370531666	5 SubmittersRCV000817254 RCV001191362 RCV002406867 RCV004001803 RCV004822225
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)	SNV Germline	Chr6:7571411	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA029827	rs_141956992	5 SubmittersRCV000795625 RCV002501048 RCV002469292 RCV002397588 RCV003532263
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr6:7571443	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Cardiomyopathy DSP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA362679022	rs_1581805658	5 SubmittersRCV000815071 RCV002397690 RCV001798984 RCV004545802
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)	SNV Germline	Chr6:7571497	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 6 conditions not specified Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA030118	rs_372467697	5 SubmittersRCV000816087 RCV002478898 RCV005418362 RCV001182744 RCV002406857
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)	SNV Germline	Chr6:7571512	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Single Submitter	CA362679418	rs_1581805788	1 SubmittersRCV000811690
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)	SNV Germline	Chr6:7571898	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA030930	rs_375629257	4 SubmittersRCV000811893 RCV001176447 RCV002478884 RCV004001736
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)	SNV Germline	Chr6:7572015	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362680503	rs_1339486272	3 SubmittersRCV000803707 RCV003532271 RCV004807185
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)	SNV Germline	Chr6:7572063	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype 6 conditions not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362680609	rs_1431507005	8 SubmittersRCV000793869 RCV001187869 RCV001545284 RCV002422688 RCV002507367 RCV005056561 RCV004001581
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr6:7574682	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362681069	rs_1581809567	1 SubmittersRCV000819931
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)	SNV Germline	Chr6:7574704	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA032894	rs_557966264	6 SubmittersRCV000812158 RCV001185007 RCV004807197 RCV005562475 RCV001759570 RCV002478886
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)	SNV Germline	Chr6:7579494	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA037757	rs_2491079	7 SubmittersRCV000802925 RCV001183265 RCV001823745 RCV004001656 RCV002325551 RCV002477839 RCV004783863
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)	SNV Germline	Chr6:7579533	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Conflicting Classifications	CA037877	rs_761524542	5 SubmittersRCV000824518 RCV001550002 RCV002319931 RCV004002866 RCV005401638
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)	SNV Germline	Chr6:7580293	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy 6 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133969277	rs_530481219	4 SubmittersRCV000822780 RCV001186475 RCV002495181 RCV002319918
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)	SNV Germline	Chr6:7580465	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362685941	rs_763489227	3 SubmittersRCV000808801 RCV002332659 RCV004001705
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)	SNV Germline	Chr6:7581184	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362687609	rs_1290867734	3 SubmittersRCV000802413 RCV002345791 RCV004807184
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)	SNV Germline	Chr6:7583678	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA047627	rs_765687440	3 SubmittersRCV000793001 RCV001187468 RCV003166098
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)	SNV Germline	Chr6:7583980	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA362691394	rs_374262024	3 SubmittersRCV000803290 RCV002360960 RCV004001660
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)	SNV Germline	Chr6:7584416	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA362692356	rs_1396768987	2 SubmittersRCV000806125 RCV003532273
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)	SNV Germline	Chr6:7585199	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA362694102	rs_1425701789	2 SubmittersRCV000816993 RCV003532278
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)	SNV Germline	Chr6:7585259	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA051319	rs_750085948	3 SubmittersRCV000816281 RCV001772115 RCV004001785
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)	SNV Germline	Chr6:7585385	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA362694489	rs_1194266904	2 SubmittersRCV000793738 RCV002422686
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)	SNV Germline	Chr6:7585435	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA051674	rs_141078292	7 SubmittersRCV000818338 RCV002427033 RCV004001811 RCV000852999 RCV001557712
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)	SNV Germline	Chr6:7585652	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype DSP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA052174	rs_769734918	5 SubmittersRCV000809341 RCV001182978 RCV002440739 RCV003413625 RCV005250117
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)	SNV Germline	Chr6:7585634	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA052149	rs_749339594	5 SubmittersRCV000825919 RCV002434035 RCV003768562 RCV003532286
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)	SNV Germline	Chr6:7579656	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA362684123	rs_1581815654	2 SubmittersRCV001858459 RCV005235493
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)	SNV Germline	Chr6:7579954	Conflicting classifications of pathogenicity	Primary familial dilated cardiomyopathy Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA038944	rs_777407386	5 SubmittersRCV000845316 RCV001191442 RCV001373346 RCV002345928 RCV002495208
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)	SNV Germline	Chr6:7580094	Conflicting classifications of pathogenicity	Cardiomyopathy Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions	Criteria Provided Conflicting Classifications	CA039502	rs_775594375	7 SubmittersRCV000852573 RCV001165135 RCV001165137 RCV001052285 RCV001165136 RCV002352496 RCV004002904 RCV002478946
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)	SNV Germline	Chr6:7580811	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 6 conditions Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Condition: not provided	Criteria Provided Conflicting Classifications	CA042150	rs_750607476	6 SubmittersRCV000852576 RCV001052286 RCV002487883 RCV004807214 RCV003145212
NM_004415.4(DSP):c.925C>T (p.Gln309Ter)	SNV Germline	Chr6:7565506	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA362674678	rs_1581799453	2 SubmittersRCV000853384 RCV003768632
NM_004415.4(DSP):c.940-5C>T	SNV Germline	Chr6:7566372	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133955178	rs_368391882	3 SubmittersRCV000869177 RCV001179736 RCV005328419
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)	SNV Germline	Chr6:7580861	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Woolly hair-skin fragility syndrome Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA042403	rs_367767551	4 SubmittersRCV000871584 RCV001158528 RCV001158527 RCV001161732 RCV001191752 RCV002336829
NM_004415.4(DSP):c.1528C>T (p.Leu510=)	SNV Germline	Chr6:7569294	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA133956413	rs_1019692996	3 SubmittersRCV000942439 RCV004029725 RCV004004318
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)	SNV Germline	Chr6:7555755	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA362670730	rs_1442496444	2 SubmittersRCV000991352 RCV003769307
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)	SNV Germline	Chr6:7576329	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA034541	rs_762341335	7 SubmittersRCV001181479 RCV000998521 RCV004004458 RCV001858881 RCV005328461
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)	SNV Germline	Chr6:7580638	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA041553	rs_745872344	4 SubmittersRCV000998526 RCV003532345 RCV004004459 RCV001858882
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu)	SNV Germline	Chr6:7581001	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Conflicting Classifications	CA042994	rs_757018930	2 SubmittersRCV000998528 RCV003769370
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)	SNV Germline	Chr6:7581412	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA044325	rs_749124581	5 SubmittersRCV000998530 RCV001184061 RCV001068486 RCV003160151 RCV004004461
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)	SNV Germline	Chr6:7583812	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Condition: not provided Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA047978	rs_774832931	5 SubmittersRCV001178252 RCV002363525 RCV003226991 RCV002550721 RCV004004462
NM_004415.4(DSP):c.182C>T (p.Thr61Met)	SNV Germline	Chr6:7555729	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA030197	rs_200250096	4 SubmittersRCV001037087 RCV001181597 RCV004807275 RCV003160222
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)	SNV Germline	Chr6:7558155	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362671176	rs_1435125402	4 SubmittersRCV001058569 RCV001262580 RCV003160473 RCV002508288
NM_004415.4(DSP):c.700C>T (p.Gln234Ter)	SNV Germline	Chr6:7562754	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362673580	rs_1758740270	1 SubmittersRCV001037632
NM_004415.4(DSP):c.1222A>C (p.Asn408His)	SNV Germline	Chr6:7567862	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA027248	rs_142129767	4 SubmittersRCV001054671 RCV004000069 RCV001191441 RCV002365705
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)	SNV Germline	Chr6:7567874	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8	Criteria Provided Multiple Submitters No Conflicts	CA362676197	rs_1758912749	3 SubmittersRCV001045914 RCV002249651 RCV003336287
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)	SNV Germline	Chr6:7568458	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA362676325	rs_761380979	3 SubmittersRCV001063542 RCV001799038
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)	SNV Germline	Chr6:7569259	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Cardiomyopathy	Criteria Provided Conflicting Classifications	CA028448	rs_761051181	4 SubmittersRCV001063474 RCV001809974 RCV003532368
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)	SNV Germline	Chr6:7569268	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16622016	rs_544017143	4 SubmittersRCV001051061 RCV001182514 RCV004000042 RCV002393254
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)	SNV Germline	Chr6:7569300	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Keratosis palmoplantaris striata 2	Criteria Provided Conflicting Classifications	CA028615	rs_202025438	5 SubmittersRCV001067054 RCV001524522 RCV001593246 RCV002393322 RCV005408675
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)	SNV Germline	Chr6:7571578	Pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA362679843	rs_1464886350	4 SubmittersRCV001037306 RCV001724215 RCV004807276 RCV003532354
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)	SNV Germline	Chr6:7571911	Conflicting classifications of pathogenicity	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA031014	rs_749183448	5 SubmittersRCV001046213 RCV001187542 RCV002416368 RCV005626309 RCV005056826
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter)	SNV Germline	Chr6:7571938	Pathogenic	Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Single Submitter	CA362680335	rs_760214732	1 SubmittersRCV001041115

SNV
Germline

Chr6:7566428

Pathogenic

Keratosis palmoplantaris striata 2
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA007905

rs_121912991

3 SubmittersRCV000018330 RCV002381256 RCV002513099

NM_004415.4(DSP):c.861T>G (p.Asn287Lys)

SNV
Germline

Chr6:7565442

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

No Assertion Criteria Provided

CA007767

rs_121912993

1 SubmittersRCV003233070

NM_004415.4(DSP):c.2427T>A (p.Cys809Ter)

SNV
Germline

Chr6:7574786

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

No Assertion Criteria Provided

CA005360

rs_121912994

1 SubmittersRCV003233071

NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)

SNV
Germline

Chr6:7584358

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007112

rs_28931610

4 SubmittersRCV001851908 RCV000610244 RCV003233072 RCV004700249

NM_004415.4(DSP):c.1990C>T (p.Gln664Ter)

SNV
Germline

Chr6:7571928

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

No Assertion Criteria Provided

CA005220

rs_121912995

1 SubmittersRCV003233073

NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)

SNV
Germline

Chr6:7583062

Pathogenic

Lethal acantholytic epidermolysis bullosa
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA006621

rs_121912996

5 SubmittersRCV000018337 RCV000578822 RCV001048758 RCV005249991

NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)

SNV
Germline

Chr6:7579989

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Long QT syndrome
Primary dilated cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA004255

rs_121912997

10 SubmittersRCV000018339 RCV000157195 RCV000598733 RCV004786273 RCV001851909 RCV002354165 RCV003531904

NM_004415.4(DSP):c.88G>A (p.Val30Met)

SNV
Germline

Chr6:7542003

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
not specified
Cardiomyopathy
Right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Condition: not provided
Woolly hair-skin fragility syndrome
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004702

rs_121912998

28 SubmittersRCV000018340 RCV000029685 RCV000038118 RCV000234980 RCV000415109 RCV001083215 RCV000619218 RCV000724208 RCV001164369 RCV001198383 RCV001164370 RCV003996108 RCV003904847

NM_004415.4(DSP):c.8501G>A (p.Arg2834His)

SNV
Germline

Chr6:7585763

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007679

rs_121912999

5 SubmittersRCV000018341 RCV005357137 RCV005402802 RCV004017257 RCV005222691

NM_004415.4(DSP):c.7097G>A (p.Arg2366His)

SNV
Germline

Chr6:7584359

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007120

rs_387906618

8 SubmittersRCV001851996 RCV003233075 RCV005420518

NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)

SNV
Germline

Chr6:7585226

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007330

rs_193922671

8 SubmittersRCV000029683 RCV000983907 RCV001332449 RCV001506216 RCV004018686 RCV004802948

NM_004415.4(DSP):c.8301C>G (p.Thr2767=)

SNV
Germline

Chr6:7585563

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA007457

rs_145362059

16 SubmittersRCV000029684 RCV000038100 RCV000290266 RCV000385698 RCV000204143 RCV000249625 RCV000331222 RCV001092983 RCV003996124 RCV004751226

NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)

SNV
Germline

Chr6:7568443

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
DSP-related arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Familial isolated arrhythmogenic right ventricular dysplasia
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA004862

rs_397516915

10 SubmittersRCV000208168 RCV000770234 RCV000991215 RCV001056868 RCV001813751 RCV002371832 RCV003330410 RCV003996331

NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)

SNV
Germline

Chr6:7568444

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004870

rs_397516916

8 SubmittersRCV000037990 RCV000253534 RCV002513492 RCV001177317 RCV004589531 RCV002496606 RCV003996332

NM_004415.4(DSP):c.1574+14G>T

SNV
Germline

Chr6:7569354

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA005026

rs_200443042

8 SubmittersRCV000037996 RCV001161051 RCV001161050 RCV001161049 RCV001528753 RCV002054684

NM_004415.4(DSP):c.157T>G (p.Ser53Ala)

SNV
Germline

Chr6:7542072

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA005034

rs_397516918

7 SubmittersRCV000037997 RCV000836078 RCV001081644 RCV001176801 RCV002390153 RCV003944915

NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)

SNV
Germline

Chr6:7571887

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005202

rs_145650440

7 SubmittersRCV000038003 RCV000469452 RCV001564615 RCV001175862 RCV001293188 RCV004018856

NM_004415.4(DSP):c.2134G>A (p.Val712Met)

SNV
Germline

Chr6:7574089

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA005291

rs_397516922

7 SubmittersRCV000038005 RCV000641779 RCV001508542 RCV005406773 RCV004018857 RCV003415775

NM_004415.4(DSP):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr6:7555761

Pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA005299

rs_397516923

2 SubmittersRCV000038006 RCV003764675

NM_004415.4(DSP):c.2346C>T (p.Asp782=)

SNV
Germline

Chr6:7574705

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005333

rs_139071827

14 SubmittersRCV000038007 RCV000234774 RCV000314301 RCV000349114 RCV000244439 RCV000402455 RCV000776152 RCV001084673 RCV003996335

NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)

SNV
Germline

Chr6:7574781

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA004124

rs_150339369

10 SubmittersRCV000038008 RCV000148478 RCV000641847 RCV000622195 RCV000777603 RCV001084249 RCV001159873 RCV001159871 RCV001159872

NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)

SNV
Germline

Chr6:7555789

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA005366

rs_140965835

13 SubmittersRCV000038009 RCV000470962 RCV000590870 RCV000770229 RCV001159442 RCV001160814 RCV001159441 RCV000766871 RCV002453313 RCV003996336 RCV002490516

NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)

SNV
Germline

Chr6:7575454

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA005421

rs_142429411

12 SubmittersRCV000038010 RCV000242786 RCV000238965 RCV000263694 RCV000372307 RCV000590388 RCV000318707 RCV000769221 RCV001082571

NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)

SNV
Germline

Chr6:7576436

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
DSP-related disorder
Cardiovascular phenotype
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA005587

rs_145933612

14 SubmittersRCV000038015 RCV000238651 RCV000473091 RCV000276162 RCV000370699 RCV000771365 RCV001095285 RCV001719746 RCV003964855 RCV004017316 RCV005406774

NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)

SNV
Germline

Chr6:7577031

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005665

rs_397516928

5 SubmittersRCV000038022 RCV000245114 RCV000538882 RCV001187313 RCV003441730

NM_004415.4(DSP):c.3123C>T (p.Leu1041=)

SNV
Germline

Chr6:7579313

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005735

rs_149929637

9 SubmittersRCV000038025 RCV000527373 RCV000777827 RCV000620599 RCV001650870 RCV001162944 RCV001162945 RCV001161401 RCV003996339

NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)

SNV
Germline

Chr6:7579836

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA004419

rs_199795359

7 SubmittersRCV000038029 RCV000171915 RCV000247902 RCV001182251 RCV001087636

NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)

SNV
Germline

Chr6:7580019

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA004272

rs_397516933

2 SubmittersRCV000038031 RCV003764677

NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)

SNV
Germline

Chr6:7580255

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004359

rs_148478829

17 SubmittersRCV000038034 RCV000291041 RCV000327042 RCV000253751 RCV000269608 RCV000463312 RCV000771828 RCV001086611 RCV003924923 RCV003996340

NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)

SNV
Germline

Chr6:7580679

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Restrictive cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004497

rs_148041814

13 SubmittersRCV000038045 RCV000202877 RCV000845533 RCV000619831 RCV000770246 RCV000852995 RCV001080732 RCV003952433

NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)

SNV
Germline

Chr6:7580721

Pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA004529

rs_397516940

7 SubmittersRCV000038049 RCV000528916 RCV000256151 RCV001184211 RCV002336137 RCV003996344

NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)

SNV
Germline

Chr6:7580763

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004548

rs_145796901

4 SubmittersRCV000038053 RCV000464870 RCV001177318 RCV003298071

NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)

SNV
Germline

Chr6:7580926

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004149

rs_397516942

4 SubmittersRCV000038055 RCV002513495 RCV003531933

NM_004415.4(DSP):c.478C>T (p.Arg160Ter)

SNV
Germline

Chr6:7559281

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Primary dilated cardiomyopathy
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA006226

rs_397516943

10 SubmittersRCV000038058 RCV000181275 RCV000621394 RCV000472617 RCV000999570 RCV003531934 RCV003996346

NM_004415.4(DSP):c.485G>T (p.Arg162Leu)

SNV
Germline

Chr6:7559288

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006246

rs_397516944

5 SubmittersRCV000038059 RCV001177319 RCV003105782 RCV001852797 RCV004806027

NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)

SNV
Germline

Chr6:7581357

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004633

rs_142803672

14 SubmittersRCV000172541 RCV000038060 RCV000415705 RCV000465510 RCV000617235 RCV000627160 RCV000769230 RCV001165367 RCV001165368 RCV004751236 RCV004806028

NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)

SNV
Germline

Chr6:7581408

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Migraine
Hemiplegia
Primary dilated cardiomyopathy
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Long QT syndrome
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004588

rs_142885240

21 SubmittersRCV000172543 RCV000038062 RCV000415071 RCV000406700 RCV000621777 RCV000291666 RCV000376629 RCV000769232 RCV001082740 RCV001095215 RCV003318345 RCV003974881

NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)

SNV
Germline

Chr6:7582690

Pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006459

rs_397516946

4 SubmittersRCV000038064 RCV001852798 RCV002468992 RCV004018859

NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)

SNV
Germline

Chr6:7582784

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006489

rs_397516947

5 SubmittersRCV000038066 RCV000766555 RCV001189715 RCV002513496 RCV003996347

NM_004415.4(DSP):c.5744G>A (p.Arg1915His)

SNV
Germline

Chr6:7583006

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial dilated cardiomyopathy
Palmoplantar blistering
Skin fragility with non-scarring blistering
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006581

rs_146617683

8 SubmittersRCV000766551 RCV000624492 RCV000626866 RCV001087393 RCV001189716 RCV002345297 RCV003996348

NM_004415.4(DSP):c.5899G>A (p.Val1967Met)

SNV
Germline

Chr6:7583161

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006654

rs_397516949

6 SubmittersRCV000038069 RCV001177320 RCV003335069 RCV005213198 RCV003996349 RCV004018860

NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)

SNV
Germline

Chr6:7583174

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006662

rs_397516950

7 SubmittersRCV000038070 RCV000688727 RCV001509261 RCV003298072 RCV003996350

NM_004415.4(DSP):c.607G>A (p.Asp203Asn)

SNV
Germline

Chr6:7562661

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006705

rs_374100807

4 SubmittersRCV000038071 RCV000699696 RCV004018861 RCV003996351

NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)

SNV
Germline

Chr6:7583470

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Primary dilated cardiomyopathy
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006778

rs_41302885

24 SubmittersRCV000038072 RCV000244881 RCV000172544 RCV000415621 RCV000274742 RCV000367032 RCV000776062 RCV001085925 RCV001293067 RCV003974882 RCV004806029

NM_004415.4(DSP):c.6678T>A (p.Gly2226=)

SNV
Germline

Chr6:7583940

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA007013

rs_149070106

15 SubmittersRCV000038077 RCV000355781 RCV000312693 RCV000590624 RCV000619860 RCV000352732 RCV000776149 RCV001082443

NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)

SNV
Germline

Chr6:7584143

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004685

rs_147000526

19 SubmittersRCV000038079 RCV000148480 RCV000171919 RCV000267252 RCV000297547 RCV000769239 RCV000621753 RCV001095181 RCV001079594 RCV004806031

NM_004415.4(DSP):c.688G>A (p.Asp230Asn)

SNV
Germline

Chr6:7562742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007074

rs_147315869

11 SubmittersRCV000038081 RCV000172532 RCV000621103 RCV001083960 RCV000776199 RCV001164473 RCV003944916 RCV004806032

NM_004415.4(DSP):c.699G>A (p.Trp233Ter)

SNV
Germline

Chr6:7562753

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Condition: not provided
Cardiomyopathy
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007098

rs_397516955

7 SubmittersRCV000038082 RCV000546646 RCV000763564 RCV000519036 RCV000852568 RCV001841580 RCV002371833

NM_004415.4(DSP):c.727-10T>G

SNV
Germline

Chr6:7563726

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007167

rs_375327581

6 SubmittersRCV000038085 RCV000766872 RCV001087796 RCV001180073

NM_004415.4(DSP):c.7557G>A (p.Leu2519=)

SNV
Germline

Chr6:7584819

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007225

rs_397516957

7 SubmittersRCV000038089 RCV000318144 RCV000293672 RCV000555571 RCV000385620 RCV000777800 RCV002390154 RCV001711148 RCV003996354

NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)

SNV
Germline

Chr6:7585088

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007289

rs_397516959

4 SubmittersRCV000038091 RCV001177321 RCV001048691 RCV004803130

NM_004415.4(DSP):c.782C>T (p.Ala261Val)

SNV
Germline

Chr6:7565363

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA007298

rs_139509870

8 SubmittersRCV000038092 RCV000249468 RCV000172533 RCV001079525 RCV001175837 RCV004751237

NM_004415.4(DSP):c.8472G>C (p.Gly2824=)

SNV
Germline

Chr6:7585734

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2
Condition: not provided
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA007601

rs_2744380

18 SubmittersRCV000038104 RCV000241982 RCV000577996 RCV000328251 RCV000363396 RCV000577940 RCV000578053 RCV000775978 RCV001520271 RCV001659971 RCV001711149 RCV003891481

NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)

SNV
Germline

Chr6:7585717

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007553

rs_138329459

15 SubmittersRCV000038105 RCV000172546 RCV000203133 RCV000392037 RCV000620878 RCV000337923 RCV000777790 RCV001095186 RCV001085488 RCV004803131

NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)

SNV
Germline

Chr6:7585729

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007575

rs_142717240

12 SubmittersRCV000038106 RCV000357526 RCV000405429 RCV000302977 RCV000477077 RCV000619198 RCV000587297 RCV000771367 RCV004803132

NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)

SNV
Germline

Chr6:7585798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA007730

rs_397516972

6 SubmittersRCV000038113 RCV000658263 RCV001050089 RCV001183718 RCV004017318 RCV002490519

NM_004415.4(DSP):c.867C>A (p.Cys289Ter)

SNV
Germline

Chr6:7565448

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA007784

rs_397516973

2 SubmittersRCV000038115 RCV003764681

NM_004415.4(DSP):c.868G>A (p.Glu290Lys)

SNV
Germline

Chr6:7565449

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007793

rs_397516974

3 SubmittersRCV000038116 RCV003298073 RCV003764682

NM_004415.4(DSP):c.889G>A (p.Asp297Asn)

SNV
Germline

Chr6:7565470

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
DSP-related disorder
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA007809

rs_201930322

13 SubmittersRCV000038117 RCV000377642 RCV000337806 RCV000777710 RCV000371415 RCV000467769 RCV000786123 RCV004018863 RCV004751238 RCV005042110

NM_004415.4(DSP):c.916G>A (p.Ala306Thr)

SNV
Germline

Chr6:7565497

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007850

rs_368193211

8 SubmittersRCV000038120 RCV000527493 RCV000766873 RCV001181338 RCV003298074 RCV003335070 RCV003996360

NM_004415.4(DSP):c.943C>T (p.Arg315Cys)

SNV
Germline

Chr6:7566380

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007889

rs_200476515

11 SubmittersRCV000038121 RCV000322105 RCV000355871 RCV000232142 RCV000263737 RCV000766874 RCV000620186 RCV000770231

NM_004415.4(DSP):c.1206G>A (p.Lys402=)

SNV
Germline

Chr6:7567846

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA004810

rs_150422458

15 SubmittersRCV000154520 RCV000306089 RCV000248482 RCV000360771 RCV000341310 RCV000586565 RCV000771129 RCV001084107

NM_004415.4(DSP):c.449G>A (p.Arg150Gln)

SNV
Germline

Chr6:7559252

Conflicting classifications of pathogenicity

Collapse (finding)
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006110

rs_587782940

6 SubmittersRCV000143883 RCV003531968 RCV003998154 RCV001849966 RCV002498653 RCV004992013

NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)

SNV
Germline

Chr6:7571471

Likely pathogenic

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA005162

rs_606231294

4 SubmittersRCV000144960 RCV000181378 RCV001378477

NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)

SNV
Germline

Chr6:7570553

Pathogenic

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA005088

rs_606231295

3 SubmittersRCV000144961 RCV000995757 RCV003764879

NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)

SNV
Germline

Chr6:7570558

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Palmoplantar blistering
Skin fragility with non-scarring blistering
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Criteria Provided
Conflicting Classifications

CA004119

rs_148147581

18 SubmittersRCV000148476 RCV000150560 RCV000285554 RCV000284191 RCV000515316 RCV000476727 RCV000617402 RCV000766877 RCV000626864 RCV000771793 RCV000735747 RCV003483521

NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)

SNV
Germline

Chr6:7581514

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004575

rs_34738426

14 SubmittersRCV000148479 RCV000215521 RCV000460497 RCV000764660 RCV000677333 RCV000766884 RCV001192114 RCV001332447 RCV003998168

NM_004415.4(DSP):c.5513G>A (p.Arg1838His)

SNV
Germline

Chr6:7582775

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004678

rs_377715841

9 SubmittersRCV000148475 RCV000181329 RCV000296688 RCV000351218 RCV000391247 RCV000458538 RCV000987653 RCV000777694 RCV002345454

NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)

SNV
Germline

Chr6:7584385

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004694

rs_376923069

4 SubmittersRCV000148481 RCV003298150 RCV004017421

NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)

SNV
Germline

Chr6:7580370

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA004405

rs_140474226

2 SubmittersRCV000210378 RCV000692510

NM_004415.4(DSP):c.939+1G>A

SNV
Germline

Chr6:7565521

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Keratosis palmoplantaris striata 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA007878

rs_727504443

13 SubmittersRCV000155023 RCV000211717 RCV000421912 RCV000656500 RCV000791442 RCV004806092 RCV002372015 RCV003486698

NM_004415.4(DSP):c.2723G>A (p.Arg908His)

SNV
Germline

Chr6:7576386

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005516

rs_142494121

20 SubmittersRCV000154408 RCV000330101 RCV000172535 RCV000619767 RCV000275053 RCV000300911 RCV000771121 RCV001083035 RCV003907460 RCV003993836

NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)

SNV
Germline

Chr6:7579697

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005818

rs_148894066

9 SubmittersRCV000155792 RCV000358299 RCV000265470 RCV000463442 RCV000310488 RCV000771827 RCV001311706 RCV002453517 RCV004751304 RCV003998290

NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)

SNV
Germline

Chr6:7579820

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004366

rs_727503001

4 SubmittersRCV000150567 RCV000181312 RCV003764911 RCV003298155

NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)

SNV
Germline

Chr6:7580052

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004279

rs_138907450

13 SubmittersRCV000154713 RCV000459782 RCV000342008 RCV000403440 RCV000404310 RCV000620854 RCV000723628 RCV000771831 RCV003998268 RCV003318357

NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)

SNV
Germline

Chr6:7580146

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Criteria Provided
Conflicting Classifications

CA004299

rs_138599871

7 SubmittersRCV000156223 RCV000778002 RCV001348891 RCV000766823 RCV004806093 RCV004786414

NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)

SNV
Germline

Chr6:7580680

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA004501

rs_727505037

10 SubmittersRCV000156464 RCV000157198 RCV000641822 RCV000577979 RCV000578111 RCV000578033 RCV002326889 RCV001840195 RCV001184237 RCV002498768

NM_004415.4(DSP):c.797T>C (p.Met266Thr)

SNV
Germline

Chr6:7565378

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007336

rs_370890663

4 SubmittersRCV000155791 RCV003764958 RCV002415667 RCV005401339

NM_004415.4(DSP):c.1501G>A (p.Val501Ile)

SNV
Germline

Chr6:7569267

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004988

rs_368778031

3 SubmittersRCV000154708 RCV001850118 RCV003531983

NM_004415.4(DSP):c.1743C>T (p.Ala581=)

SNV
Germline

Chr6:7571424

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005132

rs_139095230

9 SubmittersRCV000154709 RCV000231994 RCV000335979 RCV000336664 RCV000406249 RCV001618309 RCV002399543 RCV001171089 RCV003998265

NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)

SNV
Germline

Chr6:7576347

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Primary dilated cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA005492

rs_367752002

13 SubmittersRCV000171390 RCV000157192 RCV000777747 RCV001243440 RCV001293120 RCV002433646 RCV002478423 RCV003998198 RCV005055619

NM_004415.4(DSP):c.2850T>G (p.Ile950Met)

SNV
Germline

Chr6:7577015

Conflicting classifications of pathogenicity

not specified
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA005652

rs_727502999

6 SubmittersRCV000150563 RCV002483305 RCV001850046 RCV003998199 RCV002433647 RCV003531970

NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)

SNV
Germline

Chr6:7579840

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004431

rs_535202724

13 SubmittersRCV000150568 RCV000288923 RCV000352140 RCV000620762 RCV000381164 RCV000641836 RCV000777712 RCV001528379 RCV001293159 RCV003998200

NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)

SNV
Germline

Chr6:7580295

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004373

rs_141805096

8 SubmittersRCV000150569 RCV000468044 RCV000766880 RCV002505144 RCV002321623 RCV003998201 RCV005401337

NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)

SNV
Germline

Chr6:7581368

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004621

rs_147415451

19 SubmittersRCV000154715 RCV000172542 RCV000369571 RCV000405736 RCV000363258 RCV001084754 RCV000618693 RCV000769231 RCV000853150 RCV004806091 RCV003945216

NM_004415.4(DSP):c.5544G>A (p.Arg1848=)

SNV
Germline

Chr6:7582806

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006508

rs_727503004

5 SubmittersRCV000150575 RCV000302959 RCV000406140 RCV000357734 RCV001189906 RCV001488164 RCV003998203

NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)

SNV
Germline

Chr6:7585414

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007395

rs_727504569

4 SubmittersRCV000155737 RCV001057381 RCV002415665 RCV003998288

NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)

SNV
Germline

Chr6:7585636

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007514

rs_727504570

6 SubmittersRCV000155738 RCV001160404 RCV001160405 RCV001159059 RCV001319008 RCV002433682 RCV005402856 RCV004804671

NM_004415.4(DSP):c.5523A>C (p.Ser1841=)

SNV
Germline

Chr6:7582785

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006496

rs_730882116

12 SubmittersRCV000154714 RCV000298785 RCV000338424 RCV000391258 RCV000554991 RCV000771830 RCV001701692 RCV003998269 RCV003952763 RCV002345499

NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)

SNV
Germline

Chr6:7582816

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA006531

rs_550818559

5 SubmittersRCV000150576 RCV000621108 RCV000528868 RCV000777829 RCV003952711

NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)

SNV
Germline

Chr6:7583629

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006892

rs_372242085

5 SubmittersRCV000150578 RCV001850047 RCV002362787 RCV002505145 RCV001556589

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

SNV
Germline

Chr6:7585178

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Long QT syndrome
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA007320

rs_116888866

19 SubmittersRCV000150581 RCV000157210 RCV000245063 RCV000262145 RCV000319713 RCV000369032 RCV000490472 RCV000771821 RCV000987654 RCV001086541 RCV001704081 RCV003318355 RCV003945184

NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)

SNV
Germline

Chr6:7585453

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007423

rs_201397978

13 SubmittersRCV000150582 RCV000172545 RCV000299334 RCV000407212 RCV000356762 RCV000771201 RCV001088175 RCV002426712

NM_004415.4(DSP):c.264C>T (p.Ile88=)

SNV
Germline

Chr6:7555811

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005476

rs_727502997

9 SubmittersRCV000150555 RCV000283641 RCV000301234 RCV000340926 RCV000588501 RCV001087334 RCV001188350 RCV002453482

NM_004415.4(DSP):c.273+5G>A

SNV
Germline

Chr6:7555825

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Long QT syndrome
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA005542

rs_200473206

17 SubmittersRCV000150557 RCV000157211 RCV000157212 RCV000232421 RCV000239152 RCV000589518 RCV000776291 RCV001160815 RCV001162435 RCV001162436 RCV002433645 RCV003989330 RCV002492553

NM_004415.4(DSP):c.643G>A (p.Glu215Lys)

SNV
Germline

Chr6:7562697

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006931

rs_148095061

7 SubmittersRCV000154707 RCV000466856 RCV000776301 RCV001576627 RCV005042302 RCV003998264 RCV004019852

NM_004415.4(DSP):c.2131-10T>C

SNV
Germline

Chr6:7574076

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005273

rs_369821143

3 SubmittersRCV000154712 RCV002056056 RCV003998267

NM_004415.4(DSP):c.170+11G>T

SNV
Germline

Chr6:7542096

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA005103

rs_727505007

2 SubmittersRCV000156428 RCV003764973

NM_004415.4(DSP):c.269A>G (p.Gln90Arg)

SNV
Germline

Chr6:7555816

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA005503

rs_188516326

11 SubmittersRCV000150556 RCV000313888 RCV000397112 RCV000335027 RCV000462579 RCV000771368 RCV001704080 RCV002433644 RCV003895036

NM_004415.4(DSP):c.2130+1G>A

SNV
Germline

Chr6:7572069

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
DSP-related disorder
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA005266

rs_727505115

8 SubmittersRCV000156570 RCV001699211 RCV003390851 RCV003531990 RCV003998319 RCV003764976

NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)

SNV
Germline

Chr6:7569310

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005018

rs_730880079

6 SubmittersRCV000157187 RCV000793906 RCV003998329 RCV001753552

NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)

SNV
Germline

Chr6:7574215

Conflicting classifications of pathogenicity

Cardiac arrest
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005315

rs_730880080

5 SubmittersRCV000157189 RCV001183305 RCV001857553 RCV002444649 RCV003998330

NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)

SNV
Germline

Chr6:7575427

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA005414

rs_548695484

5 SubmittersRCV000157190 RCV000620868 RCV001037448 RCV001189653 RCV005406853

NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)

SNV
Germline

Chr6:7576307

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005457

rs_730880081

6 SubmittersRCV000157191 RCV000815259 RCV001762338 RCV001804870 RCV003162651 RCV003998331

NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)

SNV
Germline

Chr6:7576986

Pathogenic/Likely pathogenic

Cardiac arrest
Condition: not provided
Familial isolated arrhythmogenic right ventricular dysplasia
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005630

rs_730880082

10 SubmittersRCV000157193 RCV000181308 RCV000590295 RCV001171092 RCV000698149 RCV002433688

NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)

SNV
Germline

Chr6:7580163

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA004327

rs_41302883

5 SubmittersRCV000157196 RCV000478356 RCV000621016 RCV001179543 RCV003764987

NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)

SNV
Germline

Chr6:7580847

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004136

rs_730880084

6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003372622 RCV003998332

NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)

SNV
Germline

Chr6:7581076

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004187

rs_200243976

7 SubmittersRCV000157200 RCV000391545 RCV000373402 RCV000435354 RCV001095250 RCV000547728 RCV000619025 RCV000777787

NM_004415.4(DSP):c.4915G>A (p.Val1639Met)

SNV
Germline

Chr6:7581105

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004201

rs_539587517

5 SubmittersRCV000157201 RCV000797000 RCV001184780 RCV002272145 RCV002336341

NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)

SNV
Germline

Chr6:7581163

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
not specified
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004223

rs_202084959

9 SubmittersRCV000171916 RCV000157202 RCV001319135 RCV004992032 RCV001182018 RCV005237591 RCV005625344 RCV003398814

NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)

SNV
Germline

Chr6:7583569

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA006835

rs_149513743

12 SubmittersRCV000157206 RCV000181387 RCV000259235 RCV000316774 RCV000477049 RCV000318076 RCV000777748 RCV001095257 RCV002362836 RCV002484961

NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)

SNV
Germline

Chr6:7583804

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA006976

rs_730880088

5 SubmittersRCV000157208 RCV003998334 RCV003162652 RCV003162653 RCV002516353

NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)

SNV
Germline

Chr6:7584074

Conflicting classifications of pathogenicity

Ventricular fibrillation, paroxysmal familial, type 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007031

rs_730880089

3 SubmittersRCV000157209 RCV000538142 RCV004019895

NM_004415.4(DSP):c.1352G>A (p.Arg451His)

SNV
Germline

Chr6:7568522

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004905

rs_786204294

4 SubmittersRCV000230398 RCV001582663 RCV003150035 RCV003995634

NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)

SNV
Germline

Chr6:7576987

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005638

rs_759869347

6 SubmittersRCV000168645 RCV001186292 RCV001850383 RCV002433723 RCV002492682 RCV003995636

NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)

SNV
Germline

Chr6:7579752

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiovascular phenotype
not specified
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005843

rs_141508330

15 SubmittersRCV000171913 RCV000185557 RCV000230086 RCV000777754 RCV001161514 RCV001161515 RCV002453565 RCV003488414 RCV002492683 RCV003995637

NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)

SNV
Germline

Chr6:7580965

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004168

rs_200421954

8 SubmittersRCV000168648 RCV000464510 RCV000778012 RCV001847799 RCV002336384 RCV003995638

NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)

SNV
Germline

Chr6:7581253

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004665

rs_372288373

5 SubmittersRCV000688203 RCV001186293 RCV001256762 RCV003995639 RCV005328219

NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)

SNV
Germline

Chr6:7581384

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004608

rs_780224658

6 SubmittersRCV001186294 RCV001230073 RCV002336385 RCV002505219 RCV003995640 RCV004589827

NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)

SNV
Germline

Chr6:7581553

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA004568

rs_139673146

9 SubmittersRCV000168651 RCV000797985 RCV001183735 RCV002345562 RCV003995641 RCV004700519 RCV004786483 RCV005003513

NM_004415.4(DSP):c.7125G>A (p.Gly2375=)

SNV
Germline

Chr6:7584387

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007142

rs_141709096

9 SubmittersRCV000168655 RCV000338092 RCV000298541 RCV000468695 RCV000360346 RCV000617624 RCV000777713 RCV001721093

NM_004415.4(DSP):c.386G>A (p.Arg129Gln)

SNV
Germline

Chr6:7558228

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005938

rs_749155619

7 SubmittersRCV000171908 RCV001170911 RCV002517657 RCV003995664 RCV005235080

NM_004415.4(DSP):c.1630A>C (p.Met544Leu)

SNV
Germline

Chr6:7570492

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005059

rs_201960323

7 SubmittersRCV000171909 RCV000521366 RCV000774660 RCV001852087 RCV003985016 RCV003995665 RCV004020050

NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)

SNV
Germline

Chr6:7579790

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004249

rs_202049575

7 SubmittersRCV000171914 RCV000693151 RCV001523968 RCV002453593 RCV003387786

NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)

SNV
Germline

Chr6:7580224

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004347

rs_201964660

4 SubmittersRCV000172537 RCV001191383 RCV002516569 RCV003995676

NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)

SNV
Germline

Chr6:7580931

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA004153

rs_186842903

9 SubmittersRCV000172539 RCV000223681 RCV000304932 RCV000335501 RCV000405660 RCV000617663 RCV000777774 RCV001082657

NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)

SNV
Germline

Chr6:7583238

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006670

rs_763921000

3 SubmittersRCV000171918 RCV001204085 RCV003995668

NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)

SNV
Germline

Chr6:7585079

Conflicting classifications of pathogenicity

Condition: not provided
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007281

rs_199597935

6 SubmittersRCV000171921 RCV001158964 RCV001158963 RCV001158965 RCV001184995 RCV001371106 RCV003995669

NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)

SNV
Germline

Chr6:7585126

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007306

rs_752616130

3 SubmittersRCV000171922 RCV000554772 RCV001524839

NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)

SNV
Germline

Chr6:7585724

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007566

rs_201826850

5 SubmittersRCV000171924 RCV000618112 RCV001088341 RCV001160407 RCV001160408 RCV001160406 RCV001183474

NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)

SNV
Germline

Chr6:7585007

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007266

rs_751712837

8 SubmittersRCV000176483 RCV001180811 RCV001327337 RCV002492761 RCV003995685 RCV003165368

NM_004415.4(DSP):c.47G>C (p.Arg16Pro)

SNV
Germline

Chr6:7541962

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006233

rs_752387234

6 SubmittersRCV000181354 RCV000691756 RCV001179622 RCV002336448 RCV002492801 RCV003996666

NM_004415.4(DSP):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr6:7542066

Pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA005003

rs_794728156

2 SubmittersRCV000181391 RCV005222799

NM_004415.4(DSP):c.197A>T (p.Gln66Leu)

SNV
Germline

Chr6:7555744

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005211

rs_794728152

4 SubmittersRCV000181376 RCV002516833 RCV004806172 RCV002415769

NM_004415.4(DSP):c.273+1G>A

SNV
Germline

Chr6:7555821

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA005529

rs_794728106

4 SubmittersRCV000181270 RCV001852265 RCV003996637 RCV005401357

NM_004415.4(DSP):c.273+3A>G

SNV
Germline

Chr6:7555823

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005536

rs_794728107

5 SubmittersRCV000181271 RCV001189662 RCV001852266 RCV004020189 RCV003996638

NM_004415.4(DSP):c.521G>T (p.Cys174Phe)

SNV
Germline

Chr6:7559324

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006407

rs_377507763

9 SubmittersRCV000181276 RCV000526423 RCV000781333 RCV001177596 RCV002336445 RCV002478607 RCV003996639

NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)

SNV
Germline

Chr6:7565469

Pathogenic/Likely pathogenic

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA007801

rs_149701627

3 SubmittersRCV000181280 RCV001176346 RCV001237792

NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)

SNV
Germline

Chr6:7567376

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Keratosis palmoplantaris striata 2
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004763

rs_780626687

8 SubmittersRCV000414775 RCV000590097 RCV000816725 RCV001190479 RCV001198235 RCV002408784 RCV002485188 RCV003996641

NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)

SNV
Germline

Chr6:7567411

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004770

rs_794728112

5 SubmittersRCV000181286 RCV000617850 RCV001240538 RCV001526098 RCV003996642

NM_004415.4(DSP):c.1344G>A (p.Leu448=)

SNV
Germline

Chr6:7568514

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Condition: not provided
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA004898

rs_138226280

13 SubmittersRCV000181255 RCV000227634 RCV000621322 RCV000771824 RCV001164570 RCV001164569 RCV001162536 RCV001701700 RCV003937647

NM_004415.4(DSP):c.1426G>A (p.Val476Met)

SNV
Germline

Chr6:7569192

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004943

rs_367987327

5 SubmittersRCV000181289 RCV001179617 RCV001370467 RCV003996643 RCV004992057

NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)

SNV
Germline

Chr6:7569234

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004958

rs_781084693

7 SubmittersRCV000181290 RCV000778029 RCV001051422 RCV001164571 RCV001164572 RCV001164573 RCV001328341 RCV002390450 RCV003996644

NM_004415.4(DSP):c.1611G>A (p.Trp537Ter)

SNV
Germline

Chr6:7570473

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA005042

rs_794728114

1 SubmittersRCV003032210

NM_004415.4(DSP):c.1731G>A (p.Met577Ile)

SNV
Germline

Chr6:7571412

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005124

rs_794728101

4 SubmittersRCV000544740 RCV001190477 RCV002247597 RCV003996632

NM_004415.4(DSP):c.2027G>A (p.Arg676His)

SNV
Germline

Chr6:7571965

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005232

rs_777782794

3 SubmittersRCV001053428 RCV001191360 RCV003996645

NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)

SNV
Germline

Chr6:7575326

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA005390

rs_141834182

7 SubmittersRCV000181300 RCV001048380 RCV001179618 RCV002444728 RCV002485189 RCV003227697

NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)

SNV
Germline

Chr6:7575410

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005407

rs_111368396

10 SubmittersRCV000181301 RCV000524989 RCV000769220 RCV002426871 RCV002503703 RCV003488434 RCV003996647

NM_004415.4(DSP):c.2617C>T (p.Gln873Ter)

SNV
Germline

Chr6:7575475

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005429

rs_794728118

2 SubmittersRCV001237784 RCV005549921

NM_004415.4(DSP):c.2622C>G (p.Ile874Met)

SNV
Germline

Chr6:7575480

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005436

rs_751067479

7 SubmittersRCV000181303 RCV000535270 RCV000617477 RCV000769222 RCV002485190 RCV003996648

NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)

SNV
Germline

Chr6:7576307

Pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA005467

rs_730880081

2 SubmittersRCV000181304 RCV001852269

NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)

SNV
Germline

Chr6:7576428

Conflicting classifications of pathogenicity

Condition: not provided
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA005581

rs_755099716

5 SubmittersRCV000181305 RCV001162840 RCV001164897 RCV001164896 RCV001184499 RCV002433787 RCV002517770

NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)

SNV
Germline

Chr6:7576437

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Familial restrictive cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA005594

rs_139799237

12 SubmittersRCV000181307 RCV000327634 RCV000283495 RCV000291383 RCV000456401 RCV000621213 RCV000777766 RCV000853132 RCV001256832 RCV004806171

NM_004415.4(DSP):c.2985G>A (p.Glu995=)

SNV
Germline

Chr6:7577886

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA005698

rs_768858918

6 SubmittersRCV000181311 RCV000685638 RCV002433788 RCV003532018 RCV003996649 RCV004751347

NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)

SNV
Germline

Chr6:7579806

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 1S
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004293

rs_151115778

11 SubmittersRCV000238924 RCV000491844 RCV000461417 RCV000727240 RCV000780218 RCV001177071 RCV002453646 RCV003996633

NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)

SNV
Germline

Chr6:7579851

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004450

rs_794728120

5 SubmittersRCV000181313 RCV000253679 RCV002516831 RCV005401358

NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)

SNV
Germline

Chr6:7579891

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004175

rs_185367490

6 SubmittersRCV000181314 RCV000778030 RCV001079445 RCV004020190 RCV005361088

NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)

SNV
Germline

Chr6:7579905

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA004206

rs_752645827

2 SubmittersRCV000793078 RCV001185416

NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)

SNV
Germline

Chr6:7579990

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004259

rs_759698959

6 SubmittersRCV000181380 RCV000697890 RCV001184990 RCV002354474 RCV003996668

NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)

SNV
Germline

Chr6:7579995

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA004265

rs_767643821

11 SubmittersRCV000181316 RCV000709723 RCV001028062 RCV001388420 RCV003165384 RCV003150054 RCV005431529

NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)

SNV
Germline

Chr6:7580161

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA004321

rs_749820299

6 SubmittersRCV000181381 RCV000248590 RCV001182505 RCV001217138 RCV002485193 RCV005237666

NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)

SNV
Germline

Chr6:7580365

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004398

rs_201736018

9 SubmittersRCV000181320 RCV000815172 RCV001180303 RCV001704862 RCV002326981 RCV003996650

NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)

SNV
Germline

Chr6:7580388

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Dilated cardiomyopathy 1A
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA004412

rs_770873593

12 SubmittersRCV000181321 RCV000697999 RCV001176347 RCV001256837 RCV001336684 RCV002326982 RCV002500527 RCV004796071

NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)

SNV
Germline

Chr6:7581091

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004194

rs_144106775

8 SubmittersRCV000181324 RCV000203117 RCV000704467 RCV000766881 RCV001181056 RCV002336446 RCV003996652

NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)

SNV
Germline

Chr6:7581133

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004213

rs_202232360

5 SubmittersRCV000181260 RCV000778027 RCV001087060 RCV002336443 RCV003996634

NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)

SNV
Germline

Chr6:7581151

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004217

rs_749730642

9 SubmittersRCV000219274 RCV000457559 RCV000771384 RCV000853137 RCV001537824 RCV002345629 RCV003996651

NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)

SNV
Germline

Chr6:7581187

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA004229

rs_768577891

7 SubmittersRCV000181261 RCV000641770 RCV000778028 RCV002336444 RCV002500526

NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)

SNV
Germline

Chr6:7581225

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004671

rs_762561997

10 SubmittersRCV000181325 RCV000686543 RCV000766882 RCV001179619 RCV002336447 RCV004751348 RCV003996653

NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)

SNV
Germline

Chr6:7581402

Pathogenic

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA004601

rs_794728124

6 SubmittersRCV000619482 RCV000655930 RCV001526108 RCV003480077 RCV003996654 RCV004556760

NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)

SNV
Germline

Chr6:7583143

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006646

rs_368869076

5 SubmittersRCV000181335 RCV000641808 RCV001179620 RCV002354470

NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)

SNV
Germline

Chr6:7583317

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006697

rs_771974957

5 SubmittersRCV000181385 RCV001041422 RCV001182506 RCV002354475 RCV003996670

NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)

SNV
Germline

Chr6:7583450

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006758

rs_142927608

5 SubmittersRCV000181338 RCV000617463 RCV001179621 RCV001343592 RCV003996658

NM_004415.4(DSP):c.6248G>A (p.Arg2083His)

SNV
Germline

Chr6:7583510

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006785

rs_574637009

6 SubmittersRCV000181339 RCV000463211 RCV001181425 RCV002362928 RCV003996659

NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)

SNV
Germline

Chr6:7583659

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA006920

rs_372393122

11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903

NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)

SNV
Germline

Chr6:7583740

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA006940

rs_777573018

7 SubmittersRCV001206927 RCV003996660 RCV001529323 RCV004992058 RCV003454479

NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)

SNV
Germline

Chr6:7583741

Conflicting classifications of pathogenicity

Condition: not provided
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA006950

rs_146642551

7 SubmittersRCV000181343 RCV000344461 RCV000406693 RCV000295633 RCV000800064 RCV001181803 RCV002354473 RCV002478608 RCV003996661

NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)

SNV
Germline

Chr6:7583758

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
DSP-related cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA006958

rs_141026028

5 SubmittersRCV000181342 RCV000618020 RCV000641796 RCV001176348 RCV003389242

NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)

SNV
Germline

Chr6:7584112

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA007041

rs_794728130

6 SubmittersRCV000181344 RCV003765110 RCV003996662 RCV004017454 RCV004992059 RCV005402869

NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)

SNV
Germline

Chr6:7584572

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007189

rs_794728132

4 SubmittersRCV000181346 RCV001182504 RCV001215904 RCV002381586

NM_004415.4(DSP):c.7575C>T (p.Gly2525=)

SNV
Germline

Chr6:7584837

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007234

rs_780156504

5 SubmittersRCV000181389 RCV000620037 RCV001179623 RCV001852274 RCV003996671

NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)

SNV
Germline

Chr6:7585738

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA007610

rs_139969658

5 SubmittersRCV000181351 RCV002444729 RCV002515308 RCV002485192 RCV003996664

NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)

SNV
Germline

Chr6:7579484

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA277899

rs_535762713

6 SubmittersRCV000203129 RCV000998523 RCV001222455 RCV000620457 RCV001183800 RCV003997052

NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)

SNV
Germline

Chr6:7583951

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA048221

rs_759982048

6 SubmittersRCV000202734 RCV001184544 RCV002363023 RCV002500637 RCV001705162 RCV002515500

NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)

SNV
Germline

Chr6:7585762

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA052606

rs_753033333

11 SubmittersRCV000202757 RCV000821527 RCV000480458 RCV002444822 RCV002500638 RCV003997054 RCV003532050

NM_004415.4(DSP):c.55C>T (p.Arg19Cys)

SNV
Germline

Chr6:7541970

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045323

rs_777340009

4 SubmittersRCV000208151 RCV002517394 RCV003532052 RCV003997676

NM_004415.4(DSP):c.265G>A (p.Val89Met)

SNV
Germline

Chr6:7555812

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA034526

rs_766022243

4 SubmittersRCV000208347 RCV003765342 RCV003997677 RCV005402884

NM_004415.4(DSP):c.598-4G>A

SNV
Germline

Chr6:7562648

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046498

rs_747448946

7 SubmittersRCV000208515 RCV000443483 RCV000531712 RCV001190669 RCV000621482 RCV003997684

NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)

SNV
Germline

Chr6:7571985

Conflicting classifications of pathogenicity

Cardiac arrest
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA031498

rs_775181391

5 SubmittersRCV000208261 RCV000617885 RCV001525885 RCV001853298 RCV003997678

NM_004415.4(DSP):c.2597G>A (p.Arg866His)

SNV
Germline

Chr6:7575455

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034081

rs_764965132

4 SubmittersRCV000208025 RCV001228122 RCV003437008 RCV002426975

NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)

SNV
Germline

Chr6:7579324

Conflicting classifications of pathogenicity

Ventricular fibrillation
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037219

rs_374263890

8 SubmittersRCV000208250 RCV000465636 RCV000852571 RCV002485358 RCV003437009 RCV004020554 RCV003997679

NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)

SNV
Germline

Chr6:7580998

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA351759

rs_869025393

4 SubmittersRCV000208078 RCV002336577 RCV003997680 RCV001347430

NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)

SNV
Germline

Chr6:7581256

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA351901

rs_869025394

4 SubmittersRCV000208263 RCV001297580 RCV002345748 RCV003997681

NM_004415.4(DSP):c.5379+8C>G

SNV
Germline

Chr6:7581577

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA079695

rs_771984464

2 SubmittersRCV000208350 RCV000983770

NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)

SNV
Germline

Chr6:7582879

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
not specified
Keratosis palmoplantaris striata 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Criteria Provided
Conflicting Classifications

CA045373

rs_144392839

8 SubmittersRCV000208104 RCV000333252 RCV000387699 RCV000539472 RCV000330069 RCV002345749 RCV001188116 RCV001705181 RCV005235117 RCV005031780

NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)

SNV
Germline

Chr6:7583113

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA353961

rs_869025395

7 SubmittersRCV000208287 RCV000427986 RCV000529617 RCV002515542 RCV001187850 RCV004992082 RCV003997682

NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr)

SNV
Germline

Chr6:7584511

Conflicting classifications of pathogenicity

Cardiac arrest
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA049348

rs_760501352

2 SubmittersRCV000208310 RCV001853300

NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)

SNV
Germline

Chr6:7585186

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA351806

rs_869025397

11 SubmittersRCV000208142 RCV000220371 RCV000469566 RCV001185751 RCV001762452 RCV002485359 RCV003997683 RCV003298272

NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)

SNV
Germline

Chr6:7585196

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051192

rs_749682166

2 SubmittersRCV000208399 RCV001853301

NM_004415.4(DSP):c.877G>A (p.Glu293Lys)

SNV
Germline

Chr6:7565458

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10576692

rs_876657799

5 SubmittersRCV000213251 RCV001349341 RCV001770162 RCV005235137

NM_004415.4(DSP):c.939C>T (p.Ser313=)

SNV
Germline

Chr6:7565520

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa simplex due to plakophilin deficiency
Woolly hair-skin fragility syndrome
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA053203

rs_766580649

8 SubmittersRCV000214984 RCV000264555 RCV000304703 RCV000361568 RCV000395114 RCV001187858 RCV001726053 RCV002444862 RCV002517546

NM_004415.4(DSP):c.1483G>A (p.Val495Met)

SNV
Germline

Chr6:7569249

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA028405

rs_372014020

10 SubmittersRCV000220212 RCV000766808 RCV001089348 RCV001159658 RCV001159659 RCV001159660 RCV000619701 RCV000776308 RCV000852569

NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)

SNV
Germline

Chr6:7571554

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10576696

rs_876657638

3 SubmittersRCV000214415 RCV000813995 RCV002408930

NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)

SNV
Germline

Chr6:7575404

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA033863

rs_778636665

6 SubmittersRCV000218085 RCV000766550 RCV000468852 RCV000620836 RCV001189152 RCV003997731

NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)

SNV
Germline

Chr6:7579493

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA037736

rs_372440854

12 SubmittersRCV000216605 RCV000351324 RCV000294045 RCV000241632 RCV000338741 RCV000587379 RCV000776183 RCV001079139

NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)

SNV
Germline

Chr6:7579697

Likely pathogenic

Primary dilated cardiomyopathy
Keratosis palmoplantaris striata 2
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10576698

rs_148894066

2 SubmittersRCV000218217 RCV004796108

NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)

SNV
Germline

Chr6:7579996

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA10576699

rs_876657795

5 SubmittersRCV000217337 RCV001190730 RCV000690560 RCV003298281 RCV002485384

NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)

SNV
Germline

Chr6:7580668

Conflicting classifications of pathogenicity

not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041687

rs_760433367

6 SubmittersRCV000215393 RCV000294546 RCV000352223 RCV000407699 RCV001853449 RCV003997732 RCV001183806 RCV005549928

NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)

SNV
Germline

Chr6:7580704

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041817

rs_375919492

6 SubmittersRCV000218906 RCV000641799 RCV001187399 RCV003997733 RCV002338679

NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)

SNV
Germline

Chr6:7580716

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041851

rs_577061462

6 SubmittersRCV000221227 RCV000641844 RCV000771205 RCV001555477 RCV002327087

NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)

SNV
Germline

Chr6:7582679

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045024

rs_149773722

5 SubmittersRCV000222527 RCV001775676 RCV001853408 RCV002347824 RCV003997702

NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)

SNV
Germline

Chr6:7583324

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046754

rs_760673242

6 SubmittersRCV000215746 RCV000641794 RCV000766953 RCV001187340 RCV000621984 RCV003997734

NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)

SNV
Germline

Chr6:7583704

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047699

rs_144539278

8 SubmittersRCV000219958 RCV001179802 RCV001071095 RCV003997736 RCV001729464 RCV003362730

NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)

SNV
Germline

Chr6:7584884

Conflicting classifications of pathogenicity

not specified
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050314

rs_142078450

9 SubmittersRCV000218025 RCV000378413 RCV000278298 RCV000814505 RCV001177077 RCV001557999 RCV005361237 RCV002390579 RCV004786567

NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)

SNV
Germline

Chr6:7583531

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Long QT syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047213

rs_755069593

8 SubmittersRCV000223906 RCV001524580 RCV000641824 RCV001557006 RCV003998652 RCV003318371 RCV003390975 RCV004020712

NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)

SNV
Germline

Chr6:7567412

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA026976

rs_141163578

6 SubmittersRCV000235358 RCV001178587 RCV001753712 RCV002429158 RCV002487105 RCV003998931

NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)

SNV
Germline

Chr6:7578482

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA036605

rs_772551736

4 SubmittersRCV000235509 RCV001184006 RCV002436067 RCV002503920

NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)

SNV
Germline

Chr6:7579702

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038290

rs_762449180

4 SubmittersRCV000236673 RCV001187147 RCV001770214 RCV004806272

NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)

SNV
Germline

Chr6:7579930

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10584679

rs_867067755

3 SubmittersRCV000235611 RCV003998934 RCV003278718

NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)

SNV
Germline

Chr6:7580860

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042391

rs_747582734

4 SubmittersRCV000235632 RCV001764223 RCV002338776 RCV003998935

NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)

SNV
Germline

Chr6:7584814

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
DSP-related disorder
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA050116

rs_757394666

8 SubmittersRCV000236392 RCV001181789 RCV003144172 RCV003977702 RCV002392736 RCV003998938 RCV005404428

NM_004415.4(DSP):c.8019C>T (p.Asp2673=)

SNV
Germline

Chr6:7585281

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiomyopathy
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA051387

rs_144275591

8 SubmittersRCV000235966 RCV000248548 RCV000283622 RCV000287598 RCV000384363 RCV000424182 RCV000777797 RCV003930016

NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)

SNV
Germline

Chr6:7585432

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10584685

rs_879254353

3 SubmittersRCV000235256 RCV003329269 RCV002429159

NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)

SNV
Germline

Chr6:7580193

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10586152

rs_879255521

3 SubmittersRCV000234860 RCV002518538 RCV004992132

NM_004415.4(DSP):c.667G>A (p.Gly223Ser)

SNV
Germline

Chr6:7562721

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048208

rs_200806163

4 SubmittersRCV000252876 RCV000549443 RCV001181619 RCV001576839

NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)

SNV
Germline

Chr6:7572060

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA031715

rs_773113261

7 SubmittersRCV000251355 RCV001293468 RCV001296620 RCV001582898 RCV002494789 RCV003995707 RCV003532073

NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)

SNV
Germline

Chr6:7580112

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA039598

rs_144641271

9 SubmittersRCV000244840 RCV000772091 RCV001041041 RCV001564859 RCV003995709 RCV002487147

NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)

SNV
Germline

Chr6:7579385

Pathogenic

Cardiovascular phenotype
Familial isolated arrhythmogenic right ventricular dysplasia
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10587633

rs_886039178

3 SubmittersRCV000248265 RCV002265716 RCV001229897

NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)

SNV
Germline

Chr6:7580067

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039408

rs_376555665

8 SubmittersRCV000254437 RCV000786302 RCV000473064 RCV001183997 RCV002479978 RCV003999027

NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)

SNV
Germline

Chr6:7585000

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050590

rs_371129517

6 SubmittersRCV000483520 RCV000253165 RCV000825918 RCV001176561 RCV003995724 RCV002519003

NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)

SNV
Germline

Chr6:7584164

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048606

rs_772381363

7 SubmittersRCV000242599 RCV000764661 RCV000786303 RCV001057375 RCV003532071 RCV003999017

NM_004415.4(DSP):c.268C>T (p.Gln90Ter)

SNV
Germline

Chr6:7555815

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588418

rs_886039343

7 SubmittersRCV000255530 RCV000459399 RCV001000062 RCV002436088 RCV004806277 RCV005401409

NM_004415.4(DSP):c.2683T>C (p.Tyr895His)

SNV
Germline

Chr6:7576346

Conflicting classifications of pathogenicity

Left ventricular hypertrophy
Sudden death
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA034624

rs_375891215

10 SubmittersRCV000678703 RCV000678704 RCV001085987 RCV000255188 RCV000766878 RCV005407001 RCV001184769 RCV002450789 RCV004806278

NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)

SNV
Germline

Chr6:7576964

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035566

rs_372922674

8 SubmittersRCV000255568 RCV000620068 RCV000699886 RCV001171091 RCV002487168 RCV001705402

NM_004415.4(DSP):c.136G>A (p.Gly46Ser)

SNV
Germline

Chr6:7542051

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA027768

rs_371517189

5 SubmittersRCV000491487 RCV001181049 RCV001232032 RCV002379099 RCV003995745

NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)

SNV
Germline

Chr6:7579741

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038386

rs_147909031

6 SubmittersRCV000491154 RCV000769229 RCV002450792 RCV002494805 RCV002518772

NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)

SNV
Germline

Chr6:7585517

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051930

rs_769706539

8 SubmittersRCV000724997 RCV001236575 RCV002411147 RCV000771979 RCV003995758

NM_004415.4(DSP):c.1149A>G (p.Glu383=)

SNV
Germline

Chr6:7567789

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA027087

rs_572980966

5 SubmittersRCV000295399 RCV000373493 RCV000386417 RCV001171085 RCV002058630 RCV003950272

NM_004415.4(DSP):c.2247A>G (p.Leu749=)

SNV
Germline

Chr6:7574202

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA032278

rs_28763963

7 SubmittersRCV000278803 RCV000294285 RCV000374685 RCV000542933 RCV001555297 RCV000771810 RCV003235197 RCV002429320 RCV003995893

NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)

SNV
Germline

Chr6:7576382

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
not specified
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA034721

rs_749051278

6 SubmittersRCV000354548 RCV000470197 RCV000394733 RCV000757185 RCV000404899 RCV002429321 RCV001179332 RCV002488792

NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)

SNV
Germline

Chr6:7579791

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA038480

rs_751566392

3 SubmittersRCV000262787 RCV000295038 RCV000386997 RCV004806284 RCV002524504

NM_004415.4(DSP):c.9C>T (p.Cys3=)

SNV
Germline

Chr6:7541924

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA053491

rs_769032973

4 SubmittersRCV000288181 RCV000345539 RCV000406100 RCV000620987 RCV003995889 RCV003766059

NM_004415.4(DSP):c.36C>T (p.Asn12=)

SNV
Germline

Chr6:7541951

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA10624622

rs_886061744

2 SubmittersRCV000260128 RCV000357454 RCV000370214 RCV003766060

NM_004415.4(DSP):c.1469G>A (p.Arg490His)

SNV
Germline

Chr6:7569235

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA028300

rs_747815091

5 SubmittersRCV000262316 RCV000297782 RCV000357218 RCV000477531 RCV001184739 RCV000618799 RCV000394321 RCV003995892

NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)

SNV
Germline

Chr6:7571521

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA030240

rs_764951792

6 SubmittersRCV000271772 RCV000322152 RCV000307717 RCV000686489 RCV001188878 RCV001753831 RCV002481232 RCV005404535

NM_004415.4(DSP):c.5283C>T (p.Asn1761=)

SNV
Germline

Chr6:7581473

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex due to plakophilin deficiency
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044490

rs_763355815

6 SubmittersRCV000312304 RCV000288262 RCV000352546 RCV000406655 RCV000777687 RCV001443004 RCV002348109 RCV003995898

NM_004415.4(DSP):c.5316T>C (p.Asp1772=)

SNV
Germline

Chr6:7581506

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA044635

rs_376186141

7 SubmittersRCV000259311 RCV000360904 RCV000323845 RCV000418655 RCV001092981 RCV001187310 RCV000536757 RCV002348110

NM_004415.4(DSP):c.8217G>A (p.Pro2739=)

SNV
Germline

Chr6:7585479

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA051809

rs_755508926

5 SubmittersRCV000298299 RCV000320713 RCV000360130 RCV001805027 RCV002411251 RCV004804989 RCV002523575

NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)

SNV
Germline

Chr6:7574736

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032987

rs_755067397

6 SubmittersRCV000266242 RCV000395566 RCV000364453 RCV001178102 RCV000460397 RCV002450930 RCV003995894 RCV005222908

NM_004415.4(DSP):c.2878-4G>A

SNV
Germline

Chr6:7577775

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA036027

rs_758303966

3 SubmittersRCV000270858 RCV000315413 RCV000370075 RCV003766061 RCV003995895

NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)

SNV
Germline

Chr6:7579336

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA037298

rs_751361395

7 SubmittersRCV000272182 RCV000322535 RCV000379457 RCV000470079 RCV002323559 RCV000485378 RCV001190426 RCV003995896 RCV002480238

NM_004415.4(DSP):c.3147G>A (p.Ser1049=)

SNV
Germline

Chr6:7579337

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037319

rs_756341143

9 SubmittersRCV000316681 RCV000287261 RCV000373529 RCV001529159 RCV001187914 RCV002323560 RCV000867540 RCV003995897

NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)

SNV
Germline

Chr6:7582855

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045279

rs_562015789

8 SubmittersRCV000268654 RCV000272334 RCV000308765 RCV000481903 RCV001084945 RCV003902393 RCV000771806 RCV003995899 RCV002348111

NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)

SNV
Germline

Chr6:7583300

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA046661

rs_557263443

7 SubmittersRCV000308156 RCV000362870 RCV000404049 RCV000777689 RCV000463580 RCV003330653 RCV002356488 RCV005431642

NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)

SNV
Germline

Chr6:7584197

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA10627574

rs_886061748

6 SubmittersRCV000265357 RCV000327523 RCV000358408 RCV001304434 RCV005434871 RCV003150192 RCV003995900

NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)

SNV
Germline

Chr6:7585145

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA051060

rs_147484870

5 SubmittersRCV000277919 RCV000370195 RCV000402482 RCV000777728 RCV002411250 RCV000521787 RCV001403630

NM_004415.4(DSP):c.727-11T>C

SNV
Germline

Chr6:7563725

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA10627591

rs_886061745

2 SubmittersRCV000268002 RCV000320821 RCV000326376 RCV003995890

NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)

SNV
Germline

Chr6:7580563

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041197

rs_370063434

4 SubmittersRCV000270456 RCV000362744 RCV000366411 RCV000559827 RCV001188675 RCV002328873

NM_004415.4(DSP):c.5064G>A (p.Ala1688=)

SNV
Germline

Chr6:7581254

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA10627595

rs_886061747

4 SubmittersRCV000302895 RCV000308692 RCV000403958 RCV001187917 RCV003168550 RCV001406840

NM_004415.4(DSP):c.5217C>T (p.Ser1739=)

SNV
Germline

Chr6:7581407

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA044245

rs_748263306

4 SubmittersRCV000285785 RCV000322110 RCV000371866 RCV001406357 RCV001188877 RCV002348108

NM_004415.4(DSP):c.5820T>C (p.Asp1940=)

SNV
Germline

Chr6:7583082

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA3628100

rs_763026647

2 SubmittersRCV000280697 RCV000371937 RCV000375397 RCV002058631

NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)

SNV
Germline

Chr6:7584230

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA10627604

rs_777901747

4 SubmittersRCV000287663 RCV000387631 RCV000384308 RCV002524505 RCV003298411 RCV004806285

NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)

SNV
Germline

Chr6:7585769

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA052621

rs_764232504

3 SubmittersRCV000281481 RCV000280318 RCV000375466 RCV002524506 RCV004992184

NM_004415.4(DSP):c.1853A>C (p.His618Pro)

SNV
Germline

Chr6:7571534

Likely pathogenic

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362679550

rs_1554107096

2 SubmittersRCV000412632 RCV003766143

NM_004415.4(DSP):c.1865T>C (p.Leu622Pro)

SNV
Germline

Chr6:7571546

Pathogenic

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362679638

rs_1554107098

2 SubmittersRCV000412530 RCV005222913

NM_004415.4(DSP):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr6:7559282

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Ventricular tachycardia
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042921

rs_752941845

6 SubmittersRCV000473264 RCV000414584 RCV000852567 RCV001191134 RCV003995925 RCV004992196

NM_004415.4(DSP):c.2437-1G>C

SNV
Germline

Chr6:7575294

Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA16042651

rs_1057517903

7 SubmittersRCV000413527 RCV002251476 RCV003532093 RCV000823724 RCV000825635 RCV002450951 RCV003995916

NM_004415.4(DSP):c.2436+2T>C

SNV
Germline

Chr6:7574797

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA033304

rs_774514264

8 SubmittersRCV000420343 RCV000611197 RCV001058578 RCV003486838 RCV004992210 RCV004000501 RCV004556786

NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)

SNV
Germline

Chr6:7577023

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA035758

rs_745641212

7 SubmittersRCV000418326 RCV001191136 RCV002436353 RCV002488974 RCV002522666 RCV003483614 RCV004000569

NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)

SNV
Germline

Chr6:7581363

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044067

rs_200336897

7 SubmittersRCV000440169 RCV000472043 RCV001187374 RCV005056004 RCV003168704 RCV004000582

NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)

SNV
Germline

Chr6:7583714

Conflicting classifications of pathogenicity

Condition: not provided
not specified
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047734

rs_367759510

7 SubmittersRCV000419283 RCV001823728 RCV002480284 RCV003995955 RCV000802736 RCV001188897 RCV002365468

NM_004415.4(DSP):c.2023A>G (p.Ile675Val)

SNV
Germline

Chr6:7571961

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA031307

rs_142619902

4 SubmittersRCV000441234 RCV000558387 RCV005328262 RCV003996030

NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)

SNV
Germline

Chr6:7580055

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA039350

rs_778178956

5 SubmittersRCV000435304 RCV000617648 RCV000811101 RCV004000483 RCV004556785

NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)

SNV
Germline

Chr6:7542038

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16605117

rs_1057523045

4 SubmittersRCV000429494 RCV001387593 RCV002374692 RCV003532114

NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)

SNV
Germline

Chr6:7562746

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048648

rs_770210088

5 SubmittersRCV000423839 RCV000526876 RCV000771993 RCV002374672

NM_004415.4(DSP):c.961G>C (p.Val321Leu)

SNV
Germline

Chr6:7566398

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA053369

rs_143994626

5 SubmittersRCV000426226 RCV000704787 RCV003532118 RCV002379384 RCV004000565

NM_004415.4(DSP):c.967G>C (p.Glu323Gln)

SNV
Germline

Chr6:7566404

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA16605123

rs_1057522287

5 SubmittersRCV000434123 RCV000542223 RCV002374673 RCV004000430

NM_004415.4(DSP):c.2297+1G>A

SNV
Germline

Chr6:7574253

Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA16605140

rs_1057523629

2 SubmittersRCV000441801 RCV005222937

NM_004415.4(DSP):c.2631-5C>T

SNV
Germline

Chr6:7576289

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA034444

rs_773772683

6 SubmittersRCV000641848 RCV001721356 RCV001179850 RCV002429422 RCV003897911 RCV004000497

NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)

SNV
Germline

Chr6:7582676

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA045013

rs_768161038

3 SubmittersRCV000424004 RCV001042347 RCV003532110

NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)

SNV
Germline

Chr6:7583066

Conflicting classifications of pathogenicity

Condition: not provided
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA045770

rs_777048976

4 SubmittersRCV000433081 RCV003960011 RCV004000593 RCV002525516

NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)

SNV
Germline

Chr6:7584301

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA049017

rs_768837509

5 SubmittersRCV000455596 RCV001177917 RCV001361500 RCV004000601 RCV005004161

NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)

SNV
Germline

Chr6:7569328

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA028703

rs_748790273

6 SubmittersRCV000457295 RCV000786125 RCV001159661 RCV001159662 RCV001161048 RCV001184030 RCV004000636

NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)

SNV
Germline

Chr6:7585744

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA052478

rs_369682599

6 SubmittersRCV000462591 RCV001183502 RCV004000646 RCV002446779 RCV002481386 RCV004701491

NM_004415.4(DSP):c.2037A>G (p.Ile679Met)

SNV
Germline

Chr6:7571975

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA031402

rs_151049942

6 SubmittersRCV000457923 RCV000588384 RCV001524121 RCV002418355 RCV005235296

NM_004415.4(DSP):c.2602C>T (p.Gln868Ter)

SNV
Germline

Chr6:7575460

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA16612029

rs_1060500618

1 SubmittersRCV000460155 RCV005208708

NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)

SNV
Germline

Chr6:7579527

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Long QT syndrome 1
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16612031

rs_746877365

10 SubmittersRCV000521134 RCV000475216 RCV000589386 RCV001186299 RCV002323682 RCV004529584

NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)

SNV
Germline

Chr6:7580236

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039976

rs_144465638

5 SubmittersRCV000461903 RCV001188143 RCV005328272 RCV002481385 RCV004000638

NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)

SNV
Germline

Chr6:7581012

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16612040

rs_1060500610

4 SubmittersRCV001388391 RCV000786116 RCV002339123 RCV005401443

NM_004415.4(DSP):c.1420-1G>T

SNV
Germline

Chr6:7569185

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA16612070

rs_1060500609

1 SubmittersRCV001377406

NM_004415.4(DSP):c.5932A>G (p.Met1978Val)

SNV
Germline

Chr6:7583194

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046085

rs_770077556

4 SubmittersRCV000465768 RCV001188150 RCV002356648 RCV004000650

NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)

SNV
Germline

Chr6:7585177

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA051144

rs_771553674

7 SubmittersRCV000461737 RCV000786122 RCV001524816 RCV004000641 RCV002480359 RCV005235295

NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)

SNV
Germline

Chr6:7585786

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA16612075

rs_144850908

6 SubmittersRCV000467147 RCV001183507 RCV002244929 RCV005562360 RCV004000645 RCV004577523

NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)

SNV
Germline

Chr6:7577834

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16612198

rs_1060500615

6 SubmittersRCV000470333 RCV001177371 RCV000786305 RCV003380568

NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)

SNV
Germline

Chr6:7579720

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038306

rs_770489625

2 SubmittersRCV000477514 RCV004000637

NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)

SNV
Germline

Chr6:7580755

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Ventricular tachycardia
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
DSP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA041962

rs_375150075

10 SubmittersRCV000462984 RCV000852575 RCV001729600 RCV001188144 RCV004000639 RCV002339122 RCV003942471 RCV005235294

NM_004415.4(DSP):c.107G>C (p.Gly36Ala)

SNV
Germline

Chr6:7542022

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA026931

rs_778506459

6 SubmittersRCV000486571 RCV001176566 RCV001207737 RCV002420230 RCV004003348 RCV005407143

NM_004415.4(DSP):c.794G>A (p.Arg265Lys)

SNV
Germline

Chr6:7565375

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16618313

rs_1064796438

4 SubmittersRCV000484781 RCV000543557 RCV001176563 RCV002420241

NM_004415.4(DSP):c.2287T>C (p.Tyr763His)

SNV
Germline

Chr6:7574242

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA16618321

rs_1064794463

3 SubmittersRCV000483192 RCV001180111 RCV002526576

NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)

SNV
Germline

Chr6:7580026

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039173

rs_753270443

6 SubmittersRCV000482301 RCV001187855 RCV002367625 RCV001219231 RCV002481501 RCV004002258

NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)

SNV
Germline

Chr6:7583495

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047127

rs_377035113

7 SubmittersRCV000484114 RCV001180114 RCV001219465 RCV002481540 RCV003993981 RCV004003407 RCV003168984

NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)

SNV
Germline

Chr6:7583759

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA047861

rs_771692503

5 SubmittersRCV000479255 RCV000796935 RCV003532144 RCV004003410 RCV005355972

NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)

SNV
Germline

Chr6:7584997

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050579

rs_750744914

3 SubmittersRCV000478071 RCV001294743 RCV001525735

NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter)

SNV
Germline

Chr6:7585276

Pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA16618328

rs_1064793890

2 SubmittersRCV000483057 RCV002526544

NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter)

SNV
Germline

Chr6:7579506

Pathogenic/Likely pathogenic

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362683656

rs_1131691673

3 SubmittersRCV000493174 RCV003532145 RCV005222970

NM_004415.4(DSP):c.423-1G>T

SNV
Germline

Chr6:7559225

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362671945

rs_1304410089

3 SubmittersRCV000497916 RCV000621858 RCV001851377

NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)

SNV
Germline

Chr6:7568493

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133956074

rs_1037212969

6 SubmittersRCV000498264 RCV000641782 RCV002383958 RCV002481588 RCV003532148 RCV004003504

NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)

SNV
Germline

Chr6:7580886

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042525

rs_201785897

8 SubmittersRCV000498070 RCV000792630 RCV001185498 RCV001262576 RCV002341176 RCV004003506

NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)

SNV
Germline

Chr6:7584903

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362693462

rs_1464253797

6 SubmittersRCV000498154 RCV002395202 RCV002496907 RCV003766793 RCV004003498 RCV003532146

NM_004415.4(DSP):c.106G>A (p.Gly36Ser)

SNV
Germline

Chr6:7542021

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362675834

rs_1395509692

5 SubmittersRCV000520598 RCV000621177 RCV001185065 RCV000806208 RCV004003614

NM_004415.4(DSP):c.137G>A (p.Gly46Asp)

SNV
Germline/somatic

Chr6:7542052

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiomyopathy
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA027812

rs_140403872

9 SubmittersRCV000522871 RCV000764657 RCV001170909 RCV001375634 RCV001212813 RCV002384015 RCV003403239 RCV004003635

NM_004415.4(DSP):c.250C>T (p.Arg84Ter)

SNV
Germline

Chr6:7555797

Pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA033690

rs_768521444

3 SubmittersRCV000522261 RCV001041380 RCV002431486

NM_004415.4(DSP):c.997A>G (p.Ser333Gly)

SNV
Germline

Chr6:7566434

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA053443

rs_773685575

5 SubmittersRCV000522825 RCV000704271 RCV002384013 RCV002506277 RCV004806389

NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)

SNV
Germline

Chr6:7574243

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Keratosis palmoplantaris striata 2
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA032403

rs_113967308

5 SubmittersRCV000519543 RCV001088334 RCV001189163 RCV002448575 RCV005407678

NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)

SNV
Germline

Chr6:7580464

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040954

rs_577560157

5 SubmittersRCV000521599 RCV001185067 RCV002525196 RCV003302759

NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)

SNV
Germline

Chr6:7581252

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Keratosis palmoplantaris striata 2
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA043810

rs_757753880

7 SubmittersRCV000520322 RCV000796190 RCV001163265 RCV001189164 RCV001198030 RCV001163264 RCV001163266 RCV002341225

NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)

SNV
Germline

Chr6:7575301

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA033510

rs_774638728

4 SubmittersRCV000535925 RCV001524033 RCV002456129 RCV003999167

NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)

SNV
Germline

Chr6:7579528

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA037833

rs_768455823

5 SubmittersRCV000531336 RCV000786120 RCV001165021 RCV001165020 RCV001165022 RCV001177349 RCV002323974

NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)

SNV
Germline

Chr6:7583607

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA047362

rs_766950975

4 SubmittersRCV000545660 RCV001565051 RCV002367853 RCV003330771

NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)

SNV
Germline

Chr6:7585072

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362693825

rs_1301635888

4 SubmittersRCV000529574 RCV001190481 RCV002483422 RCV003238768

NM_004415.4(DSP):c.61G>A (p.Glu21Lys)

SNV
Germline

Chr6:7541976

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA047042

rs_747956457

5 SubmittersRCV000530910 RCV000619337 RCV001177348 RCV002253507 RCV003999175

NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)

SNV
Germline

Chr6:7579323

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Cardiac arrhythmia
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362683067

rs_1554108012

6 SubmittersRCV000527367 RCV000610239 RCV001841483 RCV001843952 RCV002298657 RCV002323972

NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)

SNV
Germline

Chr6:7580102

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039532

rs_764189408

4 SubmittersRCV000530405 RCV001180817 RCV003352914 RCV003999171

NM_004415.4(DSP):c.1034A>G (p.Asp345Gly)

SNV
Germline

Chr6:7566471

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA026696

rs_753855393

4 SubmittersRCV000541681 RCV000786124 RCV001179633

NM_004415.4(DSP):c.2482A>G (p.Met828Val)

SNV
Germline

Chr6:7575340

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362681432

rs_1338201926

3 SubmittersRCV000550815 RCV003999168 RCV005328308

NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter)

SNV
Germline

Chr6:7579538

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362683756

rs_772646601

1 SubmittersRCV000540439

NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)

SNV
Germline

Chr6:7583056

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045687

rs_748825632

6 SubmittersRCV000542834 RCV001177353 RCV001811049 RCV002358509 RCV003999173

NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)

SNV
Germline

Chr6:7585346

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051499

rs_764994940

5 SubmittersRCV000558240 RCV001179784 RCV003159826 RCV003999177 RCV004592576

NM_004415.4(DSP):c.2932A>G (p.Ile978Val)

SNV
Germline

Chr6:7577833

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA036179

rs_780823789

5 SubmittersRCV000553791 RCV001524621 RCV003159824 RCV005407715

NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)

SNV
Germline

Chr6:7580656

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA041614

rs_746782582

7 SubmittersRCV000533748 RCV000780217 RCV000770245 RCV001547456 RCV002330885 RCV003999172

NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)

SNV
Germline

Chr6:7583272

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA046586

rs_764692193

5 SubmittersRCV000546727 RCV000621387 RCV000825753 RCV001181858 RCV001547589

NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)

SNV
Germline

Chr6:7579944

Conflicting classifications of pathogenicity

Wolff-Parkinson-White pattern
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362684784

rs_1262533485

4 SubmittersRCV000656187 RCV001176898 RCV001349053 RCV001560456

NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)

SNV
Germline

Chr6:7579431

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA362683382

rs_1554108050

3 SubmittersRCV000578715 RCV000689303 RCV005044861

NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)

SNV
Germline

Chr6:7581189

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA362687617

rs_1554108431

6 SubmittersRCV000578658 RCV000612029 RCV000692483 RCV001332446 RCV004992364 RCV005231113

NM_004415.4(DSP):c.946A>G (p.Met316Val)

SNV
Germline

Chr6:7566383

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA053338

rs_201672777

5 SubmittersRCV000795477 RCV001188903 RCV003330810 RCV002377217 RCV002497238

NM_004415.4(DSP):c.5412G>T (p.Gln1804His)

SNV
Germline

Chr6:7582674

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA044990

rs_779809935

4 SubmittersRCV000586786 RCV000641780 RCV004002436 RCV004992369

NM_004415.4(DSP):c.163G>T (p.Gly55Cys)

SNV
Germline

Chr6:7542078

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362676038

rs_1214660308

3 SubmittersRCV001178827 RCV000587980 RCV002530932

NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)

SNV
Germline

Chr6:7583828

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048005

rs_766933370

6 SubmittersRCV001178829 RCV000588624 RCV002367993 RCV000707496 RCV004002438

NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)

SNV
Germline

Chr6:7585379

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051545

rs_537588390

9 SubmittersRCV000587494 RCV000678706 RCV000772488 RCV000804647 RCV002497237 RCV003159999 RCV004002439

NM_004415.4(DSP):c.919C>T (p.Gln307Ter)

SNV
Germline

Chr6:7565500

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362674648

rs_1238227166

3 SubmittersRCV000607926 RCV003767745 RCV005409685

NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)

SNV
Germline

Chr6:7580146

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039644

rs_138599871

8 SubmittersRCV000609863 RCV001181555 RCV001561478 RCV002358668 RCV001309715 RCV002498881 RCV004002475

NM_004415.4(DSP):c.8553C>T (p.Asp2851=)

SNV
Germline

Chr6:7585815

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA448531292

rs_1554109307

3 SubmittersRCV000606781 RCV001441035 RCV004002484

NM_004415.4(DSP):c.1575-15C>G

SNV
Germline

Chr6:7570422

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA028898

rs_369184165

8 SubmittersRCV001161052 RCV001176071 RCV001161054 RCV000610554 RCV001161053 RCV004002602 RCV001726265 RCV002066669

NM_004415.4(DSP):c.3954G>A (p.Lys1318=)

SNV
Germline

Chr6:7580144

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA133969022

rs_866656949

6 SubmittersRCV000607622 RCV001430429 RCV003150305 RCV004002567 RCV002358719 RCV003892358

NM_004415.4(DSP):c.146C>G (p.Thr49Ser)

SNV
Germline

Chr6:7542061

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362675961

rs_151153655

3 SubmittersRCV000618303 RCV001206891 RCV004002703

NM_004415.4(DSP):c.344A>G (p.Asn115Ser)

SNV
Germline/somatic

Chr6:7558186

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038108

rs_28763958

7 SubmittersRCV000811284 RCV000620647 RCV001187550 RCV001375635 RCV000998518 RCV004002664

NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr6:7567396

Pathogenic

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362675621

rs_778856526

2 SubmittersRCV000619279 RCV001385606

NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)

SNV
Germline

Chr6:7567820

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA027175

rs_769054351

2 SubmittersRCV000621411 RCV003767787

NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)

SNV
Germline

Chr6:7571538

Pathogenic

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362679583

rs_1554107097

2 SubmittersRCV000619054 RCV003767782

NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)

SNV
Germline

Chr6:7574114

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362680697

rs_1261146655

2 SubmittersRCV000619377 RCV001296559

NM_004415.4(DSP):c.3102C>T (p.Ile1034=)

SNV
Germline

Chr6:7579292

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA037136

rs_569974617

10 SubmittersRCV000772648 RCV001256840 RCV000617502 RCV000868535 RCV001161398 RCV001161399 RCV001161400 RCV002225686 RCV004002648 RCV003892393

NM_004415.4(DSP):c.3905G>A (p.Arg1302His)

SNV
Germline

Chr6:7580095

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039514

rs_760691999

5 SubmittersRCV001035533 RCV000619379 RCV001181382 RCV001194042 RCV004807037

NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)

SNV
Germline

Chr6:7581475

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044513

rs_751849031

6 SubmittersRCV000620319 RCV002225689 RCV001855272 RCV002499003 RCV003532206 RCV004002710

NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)

SNV
Germline

Chr6:7582645

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044883

rs_764279057

4 SubmittersRCV000621473 RCV001190257 RCV001304150 RCV004002656

NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)

SNV
Germline

Chr6:7583449

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046989

rs_374090050

4 SubmittersRCV000621909 RCV002477355 RCV003106001 RCV004002704

NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)

SNV
Germline

Chr6:7585256

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051292

rs_151309106

9 SubmittersRCV000622066 RCV000699495 RCV001181546 RCV002483708 RCV001529017 RCV004002666

NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)

SNV
Germline

Chr6:7585471

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051765

rs_149123428

3 SubmittersRCV000622023 RCV001860358 RCV004002642

NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)

SNV
Germline

Chr6:7585543

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133977666

rs_376751288

4 SubmittersRCV000641806 RCV000621798 RCV001190260 RCV004002646

NM_004415.4(DSP):c.249G>A (p.Met83Ile)

SNV
Germline

Chr6:7555796

Conflicting classifications of pathogenicity

Primary familial dilated cardiomyopathy
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362670845

rs_1426930663

7 SubmittersRCV000623911 RCV001181568 RCV001584447 RCV002531870 RCV003162761 RCV004002744

NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)

SNV
Germline

Chr6:7585571

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA052047

rs_371020228

5 SubmittersRCV000796620 RCV001185277 RCV002259357 RCV002431833

NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)

SNV
Germline

Chr6:7579983

Pathogenic/Likely pathogenic

Right ventricular cardiomyopathy
Ventricular arrhythmia
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362684869

rs_1554108172

3 SubmittersRCV000626865 RCV001389691 RCV004002759

NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)

SNV
Germline

Chr6:7580487

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362685996

rs_1554108283

4 SubmittersRCV000627293 RCV001332445

NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)

SNV
Germline

Chr6:7583713

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA047718

rs_181608152

8 SubmittersRCV000641783 RCV004003927 RCV001524939 RCV001766380 RCV004992432 RCV005407834

NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)

SNV
Germline

Chr6:7583788

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362690983

rs_746533703

4 SubmittersRCV000641795 RCV002493001 RCV004003932 RCV004992433

NM_004415.4(DSP):c.2793+1G>T

SNV
Germline

Chr6:7576457

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362682147

rs_1554107741

2 SubmittersRCV000641774 RCV005422900

NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)

SNV
Germline

Chr6:7578483

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA036622

rs_371234425

4 SubmittersRCV000641807 RCV001183056 RCV003162891 RCV004003935

NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)

SNV
Germline

Chr6:7579896

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038794

rs_377098318

6 SubmittersRCV000641769 RCV000786121 RCV001181540 RCV002358822 RCV004807062

NM_004415.4(DSP):c.976C>T (p.Leu326Phe)

SNV
Germline

Chr6:7566413

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA133955206

rs_117961973

4 SubmittersRCV000641800 RCV002499078 RCV004692007 RCV005401546

NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)

SNV
Germline

Chr6:7572009

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362680493

rs_1363445022

6 SubmittersRCV000641817 RCV001159761 RCV001159762 RCV000786306 RCV001159763 RCV003532219 RCV004003938 RCV004025628

NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)

SNV
Germline

Chr6:7574719

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA032952

rs_778350289

6 SubmittersRCV000641805 RCV001186671 RCV001164787 RCV001164786 RCV001164788 RCV002282281 RCV004003934 RCV005328342

NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)

SNV
Germline

Chr6:7580493

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA041029

rs_751972271

5 SubmittersRCV000641773 RCV001180336 RCV001175481 RCV001771873 RCV002492999

NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)

SNV
Germline

Chr6:7580562

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Myocarditis
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA041182

rs_28763965

6 SubmittersRCV000641778 RCV000852574 RCV002060746 RCV002331174 RCV004003925 RCV005603645

NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)

SNV
Germline

Chr6:7579513

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA037774

rs_771948271

2 SubmittersRCV000641816 RCV002325252

NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)

SNV
Germline

Chr6:7580748

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA041946

rs_780953141

6 SubmittersRCV000641818 RCV000770248 RCV003322801 RCV003372782 RCV004003939

NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)

SNV
Germline

Chr6:7581459

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362688224

rs_1554108477

3 SubmittersRCV000641766 RCV000850013 RCV003144420

NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)

SNV
Germline

Chr6:7579964

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038986

rs_748733750

6 SubmittersRCV000641793 RCV001183054 RCV001811134 RCV002343279 RCV004003931

NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)

SNV
Germline

Chr6:7580585

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362686215

rs_1236464864

4 SubmittersRCV000641777 RCV000850012 RCV004556807 RCV004807063

NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)

SNV
Germline

Chr6:7580595

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA041355

rs_752121953

5 SubmittersRCV000641811 RCV000845428 RCV002331175 RCV003532218

NM_004415.4(DSP):c.5649G>A (p.Ser1883=)

SNV
Germline

Chr6:7582911

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA045415

rs_760974941

5 SubmittersRCV000641853 RCV001158746 RCV001158745 RCV001158747 RCV001180340 RCV002343280 RCV005235456

NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)

SNV
Germline

Chr6:7583827

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047999

rs_767661570

8 SubmittersRCV000641803 RCV001183055 RCV001701426 RCV004003933 RCV005235455

NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)

SNV
Germline

Chr6:7584727

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA049907

rs_760552749

4 SubmittersRCV000641820 RCV000756046 RCV001183058 RCV002388081

NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)

SNV
Germline

Chr6:7585663

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052220

rs_760215987

6 SubmittersRCV000641789 RCV001180337 RCV002449013 RCV002477412 RCV004003930 RCV005409698

NM_004415.4(DSP):c.1267-2A>G

SNV
Germline

Chr6:7568435

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362676275

rs_1554106830

2 SubmittersRCV000641810 RCV002449014

NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)

SNV
Germline

Chr6:7577842

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA036196

rs_747580402

4 SubmittersRCV000641821 RCV001180338 RCV002440287 RCV002477413

NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)

SNV
Germline

Chr6:7583980

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048279

rs_374262024

5 SubmittersRCV000641801 RCV001181541 RCV002360570 RCV002483830 RCV004588066

NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)

SNV
Germline

Chr6:7566477

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA026704

rs_757208743

5 SubmittersRCV000658318 RCV001855372 RCV002388164 RCV004004189 RCV002485497

NM_004415.4(DSP):c.484C>G (p.Arg162Gly)

SNV
Germline

Chr6:7559287

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043082

rs_760711308

6 SubmittersRCV000659044 RCV001189450 RCV001297349 RCV002334222 RCV002485501 RCV004004195

NM_004415.4(DSP):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr6:7558227

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
not specified
6 conditions
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039256

rs_777763456

8 SubmittersRCV000699483 RCV001191351 RCV001192669 RCV002493218 RCV003144547 RCV003303172 RCV003999693

NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)

SNV
Germline

Chr6:7572013

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362680500

rs_1561690890

4 SubmittersRCV000696395 RCV002493206 RCV003999656 RCV004026377

NM_004415.4(DSP):c.4019G>A (p.Arg1340His)

SNV
Germline

Chr6:7580209

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039857

rs_765247380

4 SubmittersRCV000689850 RCV003999537 RCV003532231 RCV004588112

NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter)

SNV
Germline

Chr6:7580547

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362686129

rs_1561698750

1 SubmittersRCV000698502

NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)

SNV
Germline

Chr6:7580577

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA133969665

rs_948230523

4 SubmittersRCV000691670 RCV002332430 RCV001183077 RCV005603652

NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)

SNV
Germline

Chr6:7583221

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA046150

rs_759443302

6 SubmittersRCV000694629 RCV001191951 RCV003999620 RCV002477576 RCV004025209 RCV005622007

NM_004415.4(DSP):c.307C>T (p.Arg103Trp)

SNV
Germline

Chr6:7558149

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA036841

rs_375028675

3 SubmittersRCV000696670 RCV002319558 RCV003999661

NM_004415.4(DSP):c.1582C>T (p.Gln528Ter)

SNV
Germline

Chr6:7570444

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362677994

rs_1267435790

2 SubmittersRCV000702553 RCV004993971

NM_004415.4(DSP):c.2308G>A (p.Val770Ile)

SNV
Germline

Chr6:7574667

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362681039

rs_1225927424

5 SubmittersRCV000703899 RCV001805819 RCV001766550 RCV002442525 RCV003999745

NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)

SNV
Germline

Chr6:7576352

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA133964080

rs_1008407158

5 SubmittersRCV000696549 RCV002424664 RCV003999659 RCV002507214 RCV005407896

NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)

SNV
Germline

Chr6:7579950

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038929

rs_778448699

4 SubmittersRCV000705333 RCV001184094 RCV002343560 RCV003999766

NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)

SNV
Germline

Chr6:7582960

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045575

rs_751447598

2 SubmittersRCV000701988 RCV005562443

NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)

SNV
Germline

Chr6:7583101

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045899

rs_767259019

4 SubmittersRCV000687198 RCV002352121 RCV002493150 RCV004004261

NM_004415.4(DSP):c.778-2A>G

SNV
Germline

Chr6:7565357

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362673884

rs_113726158

3 SubmittersRCV000705542 RCV004017722 RCV003362918

NM_004415.4(DSP):c.1067C>T (p.Thr356Met)

SNV
Germline

Chr6:7567376

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA026911

rs_780626687

5 SubmittersRCV000685025 RCV001191638 RCV002406528 RCV004004225 RCV002485584

NM_004415.4(DSP):c.1564C>G (p.Leu522Val)

SNV
Germline

Chr6:7569330

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362677850

rs_1230995902

4 SubmittersRCV000700728 RCV002493224 RCV002397447 RCV003999708

NM_004415.4(DSP):c.2675G>A (p.Arg892His)

SNV
Germline

Chr6:7576338

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034580

rs_758592774

5 SubmittersRCV000685917 RCV000781335 RCV001771932 RCV001186262 RCV004026217

NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)

SNV
Germline

Chr6:7576388

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362681990

rs_1561694696

2 SubmittersRCV000700355 RCV001192197

NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)

SNV
Germline

Chr6:7580307

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA040186

rs_200745877

7 SubmittersRCV000685855 RCV001158421 RCV000773962 RCV002325354 RCV001158422 RCV001158423 RCV003314636 RCV002499217 RCV004004238

NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)

SNV
Germline

Chr6:7581209

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043654

rs_773113214

3 SubmittersRCV000691358 RCV003532234 RCV003999558

NM_004415.4(DSP):c.634G>A (p.Ala212Thr)

SNV
Germline

Chr6:7562688

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133953220

rs_1028793473

2 SubmittersRCV000693898 RCV003999606

NM_004415.4(DSP):c.664C>T (p.Arg222Trp)

SNV
Germline

Chr6:7562718

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362673511

rs_1233981969

5 SubmittersRCV000690435 RCV001183071 RCV003999542 RCV002499226 RCV004025051

NM_004415.4(DSP):c.665G>A (p.Arg222Gln)

SNV
Germline

Chr6:7562719

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048165

rs_377749481

3 SubmittersRCV000707300 RCV001188196 RCV003165932

NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)

SNV
Germline

Chr6:7575355

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy

Criteria Provided
Single Submitter

CA362681468

rs_1561693779

2 SubmittersRCV000694169 RCV002532254

NM_004415.4(DSP):c.4022G>A (p.Arg1341His)

SNV
Germline

Chr6:7580212

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039887

rs_112242645

6 SubmittersRCV000686257 RCV001561798 RCV001191644 RCV002352116 RCV002485599 RCV004004247

NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)

SNV
Germline

Chr6:7583374

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA046904

rs_185846631

5 SubmittersRCV000700596 RCV001262575 RCV003380689 RCV003999706 RCV003532244

NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)

SNV
Germline

Chr6:7584301

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA049007

rs_768837509

4 SubmittersRCV000694395 RCV001258161 RCV003999614 RCV004619390

NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter)

SNV
Germline

Chr6:7584502

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362692555

rs_1194358112

1 SubmittersRCV000703375

NM_004415.4(DSP):c.484C>T (p.Arg162Cys)

SNV
Germline

Chr6:7559287

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043095

rs_760711308

5 SubmittersRCV000757186 RCV001181911 RCV001855890 RCV003166010 RCV003999893

NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)

SNV
Germline

Chr6:7584328

Pathogenic/Likely pathogenic

Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Familial isolated arrhythmogenic right ventricular dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA362692159

rs_1561703331

4 SubmittersRCV000760791 RCV002493387 RCV003768287 RCV003117545

NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)

SNV
Germline

Chr6:7567902

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA027307

rs_763523373

7 SubmittersRCV000770233 RCV003999933 RCV001869067 RCV002493404 RCV005328386 RCV004751696

NM_004415.4(DSP):c.2423G>A (p.Arg808His)

SNV
Germline

Chr6:7574782

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA033170

rs_372906646

5 SubmittersRCV000769219 RCV000808893 RCV001759449 RCV002485982

NM_004415.4(DSP):c.3282G>A (p.Lys1094=)

SNV
Germline

Chr6:7579472

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037679

rs_2491080

5 SubmittersRCV000769226 RCV001500091 RCV002325464 RCV003999921

NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)

SNV
Germline

Chr6:7579740

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038373

rs_761331634

8 SubmittersRCV000769228 RCV001869065 RCV002493401 RCV002271582 RCV003279049 RCV003999922 RCV005231313

NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)

SNV
Germline

Chr6:7580389

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133969385

rs_748109826

6 SubmittersRCV000770239 RCV001046792 RCV002332549 RCV002493405 RCV003999934

NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)

SNV
Germline

Chr6:7583509

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA047157

rs_370093129

7 SubmittersRCV000769236 RCV000781334 RCV001240930 RCV002360875 RCV002485983 RCV003999923

NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)

SNV
Germline

Chr6:7584446

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA049268

rs_777930834

4 SubmittersRCV000769240 RCV001855980 RCV002370029 RCV004807127

NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)

SNV
Germline

Chr6:7585540

Conflicting classifications of pathogenicity

Cardiomyopathy
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133977650

rs_991726607

6 SubmittersRCV000769244 RCV001159055 RCV001055338 RCV001163979 RCV001163980 RCV003303238

NM_004415.4(DSP):c.46C>A (p.Arg16Ser)

SNV
Germline

Chr6:7541961

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA042548

rs_754773488

2 SubmittersRCV000774426 RCV003768377

NM_004415.4(DSP):c.485G>A (p.Arg162His)

SNV
Germline

Chr6:7559288

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043135

rs_397516944

7 SubmittersRCV000772776 RCV001856027 RCV002500998 RCV001561617 RCV002334436 RCV003999983

NM_004415.4(DSP):c.965A>G (p.Lys322Arg)

SNV
Germline

Chr6:7566402

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA053377

rs_757098196

3 SubmittersRCV000772513 RCV001856018 RCV003307405

NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)

SNV
Germline

Chr6:7568494

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA027687

rs_755492444

6 SubmittersRCV000774106 RCV003227859 RCV002501004 RCV003768364 RCV004027264 RCV004807145

NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)

SNV
Germline

Chr6:7571498

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA030133

rs_576661499

4 SubmittersRCV000774356 RCV003144583 RCV001873143 RCV004001390

NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)

SNV
Germline

Chr6:7574139

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA032115

rs_750383681

2 SubmittersRCV000774158 RCV001043553

NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)

SNV
Germline

Chr6:7580053

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039305

rs_746482538

5 SubmittersRCV000774096 RCV002534115 RCV002487583 RCV004001350 RCV004027263

NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)

SNV
Germline

Chr6:7580208

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039846

rs_768628788

7 SubmittersRCV000771506 RCV001092980 RCV001346812 RCV002352280 RCV003999956

NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)

SNV
Germline

Chr6:7580611

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA041457

rs_756456881

3 SubmittersRCV000774287 RCV002332553 RCV003768372

NM_004415.4(DSP):c.4610G>A (p.Arg1537His)

SNV
Germline

Chr6:7580800

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA042110

rs_762135558

5 SubmittersRCV000773624 RCV002265878 RCV004000028 RCV003307407 RCV002536656

NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)

SNV
Germline

Chr6:7582856

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045299

rs_780714982

4 SubmittersRCV000774465 RCV001856088 RCV004822191 RCV005562454

NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)

SNV
Germline

Chr6:7583449

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA047006

rs_374090050

5 SubmittersRCV000773340 RCV003166042 RCV004000003 RCV002501000 RCV002534057

NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)

SNV
Germline

Chr6:7585109

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050952

rs_571577908

4 SubmittersRCV000774259 RCV003768370 RCV003166049 RCV004001375

NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)

SNV
Germline

Chr6:7585138

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA051049

rs_144821643

3 SubmittersRCV000772824 RCV001850968 RCV003166041

NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)

SNV
Germline

Chr6:7585562

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362694866

rs_34884895

4 SubmittersRCV000774054 RCV001159057 RCV001159058 RCV001159056 RCV001053186 RCV002424766

NM_004415.4(DSP):c.8477G>A (p.Arg2826His)

SNV
Germline

Chr6:7585739

Conflicting classifications of pathogenicity

Cardiomyopathy
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA052461

rs_548754771

5 SubmittersRCV000774192 RCV000852577 RCV001856082 RCV002442584

NM_004415.4(DSP):c.1266+6G>A

SNV
Germline

Chr6:7567912

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA027341

rs_73375345

5 SubmittersRCV000774527 RCV001873146 RCV003908083 RCV005235480

NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr6:7571506

Pathogenic/Likely pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362679366

rs_1561690319

2 SubmittersRCV000780213 RCV001381891

NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)

SNV
Germline

Chr6:7584845

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050178

rs_746932951

5 SubmittersRCV000780212 RCV001170146 RCV004027315 RCV002535669 RCV004001513

NM_004415.4(DSP):c.2878-3C>T

SNV
Germline

Chr6:7577776

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA915944147

rs_1581813359

3 SubmittersRCV000788411 RCV004001548 RCV003353022

NM_004415.4(DSP):c.38C>T (p.Thr13Ile)

SNV
Germline

Chr6:7541953

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039453

rs_201133637

4 SubmittersRCV000799976 RCV001176100 RCV002507384 RCV004001632

NM_004415.4(DSP):c.55C>A (p.Arg19Ser)

SNV
Germline

Chr6:7541970

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362675607

rs_777340009

5 SubmittersRCV000794965 RCV000841345 RCV001805863 RCV003166125 RCV004001594

NM_004415.4(DSP):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr6:7555798

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA033711

rs_373736975

4 SubmittersRCV000793805 RCV001191571 RCV002424798 RCV004001580

NM_004415.4(DSP):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr6:7559326

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362672544

rs_1581794029

3 SubmittersRCV000826163 RCV000807937 RCV001805879

NM_004415.4(DSP):c.668G>A (p.Gly223Asp)

SNV
Germline

Chr6:7562722

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048240

rs_199509943

5 SubmittersRCV000817744 RCV001566350 RCV003307537 RCV001189307 RCV004001807

NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)

SNV
Germline

Chr6:7569334

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362677868

rs_1276338018

3 SubmittersRCV000794903 RCV002397584 RCV004807177

NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)

SNV
Germline

Chr6:7571396

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029767

rs_370531666

5 SubmittersRCV000817254 RCV001191362 RCV002406867 RCV004001803 RCV004822225

NM_004415.4(DSP):c.1730T>C (p.Met577Thr)

SNV
Germline

Chr6:7571411

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA029827

rs_141956992

5 SubmittersRCV000795625 RCV002501048 RCV002469292 RCV002397588 RCV003532263

NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr6:7571443

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
DSP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA362679022

rs_1581805658

5 SubmittersRCV000815071 RCV002397690 RCV001798984 RCV004545802

NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)

SNV
Germline

Chr6:7571497

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030118

rs_372467697

5 SubmittersRCV000816087 RCV002478898 RCV005418362 RCV001182744 RCV002406857

NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)

SNV
Germline

Chr6:7571512

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362679418

rs_1581805788

1 SubmittersRCV000811690

NM_004415.4(DSP):c.1960G>A (p.Val654Ile)

SNV
Germline

Chr6:7571898

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA030930

rs_375629257

4 SubmittersRCV000811893 RCV001176447 RCV002478884 RCV004001736

NM_004415.4(DSP):c.2077C>G (p.Leu693Val)

SNV
Germline

Chr6:7572015

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362680503

rs_1339486272

3 SubmittersRCV000803707 RCV003532271 RCV004807185

NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)

SNV
Germline

Chr6:7572063

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
6 conditions
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362680609

rs_1431507005

8 SubmittersRCV000793869 RCV001187869 RCV001545284 RCV002422688 RCV002507367 RCV005056561 RCV004001581

NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr6:7574682

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681069

rs_1581809567

1 SubmittersRCV000819931

NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)

SNV
Germline

Chr6:7574704

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA032894

rs_557966264

6 SubmittersRCV000812158 RCV001185007 RCV004807197 RCV005562475 RCV001759570 RCV002478886

NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)

SNV
Germline

Chr6:7579494

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037757

rs_2491079

7 SubmittersRCV000802925 RCV001183265 RCV001823745 RCV004001656 RCV002325551 RCV002477839 RCV004783863

NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)

SNV
Germline

Chr6:7579533

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA037877

rs_761524542

5 SubmittersRCV000824518 RCV001550002 RCV002319931 RCV004002866 RCV005401638

NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)

SNV
Germline

Chr6:7580293

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133969277

rs_530481219

4 SubmittersRCV000822780 RCV001186475 RCV002495181 RCV002319918

NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)

SNV
Germline

Chr6:7580465

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362685941

rs_763489227

3 SubmittersRCV000808801 RCV002332659 RCV004001705

NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)

SNV
Germline

Chr6:7581184

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362687609

rs_1290867734

3 SubmittersRCV000802413 RCV002345791 RCV004807184

NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)

SNV
Germline

Chr6:7583678

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047627

rs_765687440

3 SubmittersRCV000793001 RCV001187468 RCV003166098

NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)

SNV
Germline

Chr6:7583980

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362691394

rs_374262024

3 SubmittersRCV000803290 RCV002360960 RCV004001660

NM_004415.4(DSP):c.7154G>A (p.Arg2385His)

SNV
Germline

Chr6:7584416

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362692356

rs_1396768987

2 SubmittersRCV000806125 RCV003532273

NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)

SNV
Germline

Chr6:7585199

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362694102

rs_1425701789

2 SubmittersRCV000816993 RCV003532278

NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)

SNV
Germline

Chr6:7585259

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051319

rs_750085948

3 SubmittersRCV000816281 RCV001772115 RCV004001785

NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)

SNV
Germline

Chr6:7585385

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362694489

rs_1194266904

2 SubmittersRCV000793738 RCV002422686

NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)

SNV
Germline

Chr6:7585435

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051674

rs_141078292

7 SubmittersRCV000818338 RCV002427033 RCV004001811 RCV000852999 RCV001557712

NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)

SNV
Germline

Chr6:7585652

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052174

rs_769734918

5 SubmittersRCV000809341 RCV001182978 RCV002440739 RCV003413625 RCV005250117

NM_004415.4(DSP):c.8372G>A (p.Arg2791His)

SNV
Germline

Chr6:7585634

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA052149

rs_749339594

5 SubmittersRCV000825919 RCV002434035 RCV003768562 RCV003532286

NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)

SNV
Germline

Chr6:7579656

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362684123

rs_1581815654

2 SubmittersRCV001858459 RCV005235493

NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)

SNV
Germline

Chr6:7579954

Conflicting classifications of pathogenicity

Primary familial dilated cardiomyopathy
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA038944

rs_777407386

5 SubmittersRCV000845316 RCV001191442 RCV001373346 RCV002345928 RCV002495208

NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)

SNV
Germline

Chr6:7580094

Conflicting classifications of pathogenicity

Cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA039502

rs_775594375

7 SubmittersRCV000852573 RCV001165135 RCV001165137 RCV001052285 RCV001165136 RCV002352496 RCV004002904 RCV002478946

NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)

SNV
Germline

Chr6:7580811

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA042150

rs_750607476

6 SubmittersRCV000852576 RCV001052286 RCV002487883 RCV004807214 RCV003145212

NM_004415.4(DSP):c.925C>T (p.Gln309Ter)

SNV
Germline

Chr6:7565506

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362674678

rs_1581799453

2 SubmittersRCV000853384 RCV003768632

NM_004415.4(DSP):c.940-5C>T

SNV
Germline

Chr6:7566372

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133955178

rs_368391882

3 SubmittersRCV000869177 RCV001179736 RCV005328419

NM_004415.4(DSP):c.4671G>A (p.Thr1557=)

SNV
Germline

Chr6:7580861

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042403

rs_367767551

4 SubmittersRCV000871584 RCV001158528 RCV001158527 RCV001161732 RCV001191752 RCV002336829

NM_004415.4(DSP):c.1528C>T (p.Leu510=)

SNV
Germline

Chr6:7569294

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133956413

rs_1019692996

3 SubmittersRCV000942439 RCV004029725 RCV004004318

NM_004415.4(DSP):c.208A>G (p.Thr70Ala)

SNV
Germline

Chr6:7555755

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362670730

rs_1442496444

2 SubmittersRCV000991352 RCV003769307

NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)

SNV
Germline

Chr6:7576329

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034541

rs_762341335

7 SubmittersRCV001181479 RCV000998521 RCV004004458 RCV001858881 RCV005328461

NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)

SNV
Germline

Chr6:7580638

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA041553

rs_745872344

4 SubmittersRCV000998526 RCV003532345 RCV004004459 RCV001858882

NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu)

SNV
Germline

Chr6:7581001

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA042994

rs_757018930

2 SubmittersRCV000998528 RCV003769370

NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)

SNV
Germline

Chr6:7581412

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044325

rs_749124581

5 SubmittersRCV000998530 RCV001184061 RCV001068486 RCV003160151 RCV004004461

NM_004415.4(DSP):c.6550G>A (p.Val2184Met)

SNV
Germline

Chr6:7583812

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA047978

rs_774832931

5 SubmittersRCV001178252 RCV002363525 RCV003226991 RCV002550721 RCV004004462

NM_004415.4(DSP):c.182C>T (p.Thr61Met)

SNV
Germline

Chr6:7555729

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030197

rs_200250096

4 SubmittersRCV001037087 RCV001181597 RCV004807275 RCV003160222

NM_004415.4(DSP):c.313C>T (p.Arg105Ter)

SNV
Germline

Chr6:7558155

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362671176

rs_1435125402

4 SubmittersRCV001058569 RCV001262580 RCV003160473 RCV002508288

NM_004415.4(DSP):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr6:7562754

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362673580

rs_1758740270

1 SubmittersRCV001037632

NM_004415.4(DSP):c.1222A>C (p.Asn408His)

SNV
Germline

Chr6:7567862

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA027248

rs_142129767

4 SubmittersRCV001054671 RCV004000069 RCV001191441 RCV002365705

NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)

SNV
Germline

Chr6:7567874

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362676197

rs_1758912749

3 SubmittersRCV001045914 RCV002249651 RCV003336287

NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)

SNV
Germline

Chr6:7568458

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362676325

rs_761380979

3 SubmittersRCV001063542 RCV001799038

NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)

SNV
Germline

Chr6:7569259

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA028448

rs_761051181

4 SubmittersRCV001063474 RCV001809974 RCV003532368

NM_004415.4(DSP):c.1502T>C (p.Val501Ala)

SNV
Germline

Chr6:7569268

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16622016

rs_544017143

4 SubmittersRCV001051061 RCV001182514 RCV004000042 RCV002393254

NM_004415.4(DSP):c.1534A>G (p.Ile512Val)

SNV
Germline

Chr6:7569300

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA028615

rs_202025438

5 SubmittersRCV001067054 RCV001524522 RCV001593246 RCV002393322 RCV005408675

NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr6:7571578

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362679843

rs_1464886350

4 SubmittersRCV001037306 RCV001724215 RCV004807276 RCV003532354

NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)

SNV
Germline

Chr6:7571911

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA031014

rs_749183448

5 SubmittersRCV001046213 RCV001187542 RCV002416368 RCV005626309 RCV005056826

NM_004415.4(DSP):c.2000G>A (p.Trp667Ter)

SNV
Germline

Chr6:7571938

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362680335

rs_760214732

1 SubmittersRCV001041115

NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)

SNV
Germline

Chr6:7571968

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA031381

rs_749238502

4 SubmittersRCV001040013 RCV001177126 RCV002479257 RCV002416342

NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)

SNV
Germline

Chr6:7576391

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133964123

rs_775080138

4 SubmittersRCV001050155 RCV003160390 RCV005414554 RCV004000035

NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)

SNV
Germline

Chr6:7578483

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA036645

rs_371234425

5 SubmittersRCV001063818 RCV002489681 RCV004807299 RCV003532369 RCV004030510

NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter)

SNV
Germline

Chr6:7579443

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362683424

rs_1759345923

1 SubmittersRCV001059242

NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)

SNV
Germline

Chr6:7579465

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037613

rs_755481878

4 SubmittersRCV001056791 RCV002445299 RCV001191126 RCV004000083

NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)

SNV
Germline

Chr6:7580661

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA041630

rs_768402359

4 SubmittersRCV001036697 RCV002327252 RCV003532353 RCV004004703

NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)

SNV
Germline

Chr6:7580925

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042618

rs_755868373

7 SubmittersRCV001042043 RCV001182918 RCV003314662 RCV003160282 RCV003318390 RCV004004744

NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser)

SNV
Germline

Chr6:7580940

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362687072

rs_191778417

2 SubmittersRCV001062466 RCV004030457

NM_004415.4(DSP):c.5618G>A (p.Arg1873His)

SNV
Germline

Chr6:7582880

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045390

rs_776088292

5 SubmittersRCV001055194 RCV001185906 RCV002348410 RCV002508287 RCV004000072

NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)

SNV
Germline

Chr6:7582930

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045475

rs_762079110

4 SubmittersRCV001179718 RCV001041700 RCV002348355 RCV004721722

NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)

SNV
Germline

Chr6:7582998

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133972240

rs_371873840

4 SubmittersRCV001035055 RCV001184388 RCV002346243 RCV004004686

NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)

SNV
Germline

Chr6:7583485

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA047094

rs_751050235

4 SubmittersRCV001069098 RCV001182055 RCV004994242 RCV005408677

NM_004415.4(DSP):c.6368G>A (p.Arg2123His)

SNV
Germline

Chr6:7583630

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA047459

rs_142272846

6 SubmittersRCV001065830 RCV005550122 RCV001185442 RCV001702877 RCV004000152

NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)

SNV
Germline

Chr6:7583857

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA133975120

rs_549451471

5 SubmittersRCV001059726 RCV002482044 RCV002374945 RCV004000110 RCV005232093

NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)

SNV
Germline

Chr6:7584851

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050189

rs_768564872

6 SubmittersRCV001067201 RCV003160555 RCV004803427 RCV001170147

NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)

SNV
Germline

Chr6:7584964

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050483

rs_139486943

4 SubmittersRCV001066084 RCV002402457 RCV003442192 RCV001180414

NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)

SNV
Germline

Chr6:7585349

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362694407

rs_1415854040

2 SubmittersRCV001049399 RCV004031540

NM_004415.4(DSP):c.2298-2A>C

SNV
Germline

Chr6:7574655

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362681010

rs_1759176299

2 SubmittersRCV001053781 RCV003989635

NM_004415.4(DSP):c.314G>A (p.Arg105Gln)

SNV
Germline

Chr6:7558156

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037337

rs_762238621

8 SubmittersRCV001162438 RCV001162437 RCV001162439 RCV001190883 RCV002032499 RCV002320382 RCV004000262 RCV002505742 RCV003317437 RCV005093676

NM_004415.4(DSP):c.1848G>A (p.Gln616=)

SNV
Germline

Chr6:7571529

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA448714104

rs_1215425090

3 SubmittersRCV001164685 RCV001164684 RCV001164686 RCV003117795 RCV005402975

NM_004415.4(DSP):c.2259G>A (p.Leu753=)

SNV
Germline

Chr6:7574214

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA448526685

rs_1759156637

3 SubmittersRCV001162731 RCV001164785 RCV001162732 RCV003532880 RCV005225248

NM_004415.4(DSP):c.5391G>A (p.Arg1797=)

SNV
Germline

Chr6:7582653

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044935

rs_778745098

5 SubmittersRCV001163383 RCV001163382 RCV001163384 RCV001526133 RCV002348585 RCV001491324 RCV004000265

NM_004415.4(DSP):c.7551G>A (p.Val2517=)

SNV
Germline

Chr6:7584813

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050097

rs_754127386

5 SubmittersRCV001163892 RCV001163891 RCV001163893 RCV001192218 RCV001494003 RCV002393375 RCV004803436

NM_004415.4(DSP):c.7767A>G (p.Ser2589=)

SNV
Germline

Chr6:7585029

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA050668

rs_755928079

4 SubmittersRCV001158960 RCV001158962 RCV001158961 RCV004000259 RCV002411655 RCV002558402

NM_004415.4(DSP):c.8199G>A (p.Thr2733=)

SNV
Germline

Chr6:7585461

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA448717230

rs_145085696

3 SubmittersRCV004994267 RCV001163977 RCV001163976 RCV001163978 RCV002558583

NM_004415.4(DSP):c.8529T>C (p.Ser2843=)

SNV
Germline

Chr6:7585791

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA052709

rs_780005300

6 SubmittersRCV001159157 RCV001159156 RCV001164065 RCV003438690 RCV002411656 RCV002558405 RCV004000260 RCV005402973

NM_004415.4(DSP):c.1903+4G>A

SNV
Germline

Chr6:7571588

Conflicting classifications of pathogenicity

Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
not specified
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030562

rs_757726608

7 SubmittersRCV001159760 RCV001164687 RCV001164688 RCV001188930 RCV001699513 RCV001702085 RCV001859036 RCV002411657

NM_004415.4(DSP):c.2131-5G>C

SNV
Germline

Chr6:7574081

Conflicting classifications of pathogenicity

Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA031980

rs_767939332

5 SubmittersRCV001161171 RCV001161172 RCV001161173 RCV001187387 RCV001479049 RCV004000261 RCV004032852

NM_004415.4(DSP):c.47G>A (p.Arg16His)

SNV
Germline

Chr6:7541962

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042936

rs_752387234

3 SubmittersRCV001876110 RCV001183676 RCV004008402

NM_004415.4(DSP):c.104G>C (p.Gly35Ala)

SNV
Germline

Chr6:7542019

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA026887

rs_202194206

6 SubmittersRCV001183279 RCV002483998 RCV002559830 RCV004008368 RCV005235530 RCV005411670

NM_004415.4(DSP):c.117G>T (p.Arg39Ser)

SNV
Germline

Chr6:7542032

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133980184

rs_748578019

6 SubmittersRCV001184794 RCV002339468 RCV003226437 RCV002559873 RCV004008482

NM_004415.4(DSP):c.130C>T (p.Arg44Trp)

SNV
Germline

Chr6:7542045

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362675902

rs_1255744065

5 SubmittersRCV001185013 RCV002379714 RCV002560864 RCV004008507 RCV004792764

NM_004415.4(DSP):c.146C>T (p.Thr49Ile)

SNV
Germline

Chr6:7542061

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA028321

rs_151153655

5 SubmittersRCV001179209 RCV001751317 RCV001293560 RCV003769941 RCV004006543

NM_004415.4(DSP):c.174A>G (p.Gln58=)

SNV
Germline

Chr6:7555721

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
DSP-related disorder
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029968

rs_140384933

8 SubmittersRCV001237446 RCV001187316 RCV002280163 RCV003928777 RCV005236672 RCV004033369

NM_004415.4(DSP):c.467T>A (p.Ile156Asn)

SNV
Germline

Chr6:7559270

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042494

rs_767692014

5 SubmittersRCV001177257 RCV002339441 RCV002558845 RCV005235525 RCV004006377

NM_004415.4(DSP):c.502G>A (p.Gly168Ser)

SNV
Germline

Chr6:7559305

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362672429

rs_1308747530

4 SubmittersRCV001186754 RCV002559946 RCV004807410 RCV004994298

NM_004415.4(DSP):c.685G>A (p.Gly229Ser)

SNV
Germline

Chr6:7562739

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048501

rs_376185352

5 SubmittersRCV001175919 RCV001204158 RCV002483945 RCV004000303 RCV002375059

NM_004415.4(DSP):c.721G>A (p.Asp241Asn)

SNV
Germline

Chr6:7562775

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133953316

rs_868293429

4 SubmittersRCV001190968 RCV001751347 RCV005225305 RCV004807444

NM_004415.4(DSP):c.809G>A (p.Arg270Gln)

SNV
Germline

Chr6:7565390

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362674081

rs_1203795810

4 SubmittersRCV001178469 RCV002418614 RCV003769928 RCV004006482

NM_004415.4(DSP):c.992A>G (p.Gln331Arg)

SNV
Germline

Chr6:7566429

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA053435

rs_746517026

3 SubmittersRCV001187486 RCV001862954 RCV004994302

NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)

SNV
Germline

Chr6:7566453

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA026669

rs_746245682

6 SubmittersRCV001182301 RCV002497638 RCV003770000 RCV003236874 RCV003373009 RCV004008286

NM_004415.4(DSP):c.1197C>G (p.Ile399Met)

SNV
Germline

Chr6:7567837

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA027192

rs_375828592

3 SubmittersRCV001182293 RCV001346562 RCV005040000

NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)

SNV
Germline

Chr6:7568519

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA027738

rs_756357907

3 SubmittersRCV001188009 RCV001351689 RCV004994304

NM_004415.4(DSP):c.1487C>T (p.Thr496Met)

SNV
Germline

Chr6:7569253

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028416

rs_374283517

3 SubmittersRCV001187385 RCV002559975 RCV003442754

NM_004415.4(DSP):c.1693A>G (p.Ile565Val)

SNV
Germline

Chr6:7570555

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362678501

rs_1287232143

3 SubmittersRCV001183595 RCV004546611 RCV005225279

NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)

SNV
Germline

Chr6:7571395

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133959941

rs_796851273

3 SubmittersRCV001192286 RCV001859163 RCV004010593

NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)

SNV
Germline

Chr6:7574149

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA032156

rs_746785505

5 SubmittersRCV001191896 RCV002429843 RCV001364770 RCV001562960 RCV004751905

NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)

SNV
Germline

Chr6:7574225

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA133962032

rs_372354883

2 SubmittersRCV001184051 RCV001876125

NM_004415.4(DSP):c.2275G>A (p.Val759Ile)

SNV
Germline

Chr6:7574230

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032363

rs_745544854

4 SubmittersRCV001182748 RCV002446998 RCV003770009 RCV004761952

NM_004415.4(DSP):c.2329A>G (p.Ile777Val)

SNV
Germline

Chr6:7574688

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA032882

rs_755860619

4 SubmittersRCV001191030 RCV001349597 RCV004010474 RCV004033417

NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)

SNV
Germline

Chr6:7575299

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362681340

rs_1393048121

4 SubmittersRCV001178418 RCV002483970 RCV003769927 RCV004033022

NM_004415.4(DSP):c.2540C>G (p.Pro847Arg)

SNV
Germline

Chr6:7575398

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033808

rs_727504657

3 SubmittersRCV001191241 RCV002560971 RCV004590199

NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)

SNV
Germline

Chr6:7575467

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA034175

rs_534413559

5 SubmittersRCV001177880 RCV001875865 RCV002436738 RCV004006421 RCV004789419

NM_004415.4(DSP):c.2720G>A (p.Arg907His)

SNV
Germline

Chr6:7576383

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034758

rs_774665110

4 SubmittersRCV001180074 RCV001875970 RCV004006620 RCV004619531

NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)

SNV
Germline

Chr6:7576386

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034804

rs_142494121

3 SubmittersRCV001189691 RCV001212971 RCV003380868

NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)

SNV
Germline

Chr6:7576398

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA034992

rs_765831604

4 SubmittersRCV001180240 RCV003490098 RCV004033049 RCV005225266

NM_004415.4(DSP):c.2771T>C (p.Met924Thr)

SNV
Germline

Chr6:7576434

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA035314

rs_752816142

4 SubmittersRCV001176703 RCV001367458 RCV003163391 RCV004006317

NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)

SNV
Germline

Chr6:7577026

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035786

rs_779878192

4 SubmittersRCV001180352 RCV002436745 RCV002560800 RCV003145367

NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)

SNV
Germline

Chr6:7579472

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA037692

rs_2491080

2 SubmittersRCV001183944 RCV003770035

NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)

SNV
Germline

Chr6:7579515

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037790

rs_367763339

6 SubmittersRCV001186586 RCV002480616 RCV002451386 RCV002559939 RCV004008614 RCV005603695

NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)

SNV
Germline

Chr6:7579578

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA037954

rs_765769174

4 SubmittersRCV001179879 RCV001875953 RCV002451369 RCV004751901

NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)

SNV
Germline

Chr6:7579956

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA038972

rs_775080202

4 SubmittersRCV001176533 RCV002558821 RCV004006304 RCV004994271

NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)

SNV
Germline

Chr6:7580109

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039587

rs_367579811

4 SubmittersRCV001183205 RCV001371953 RCV002375076 RCV004008358

NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)

SNV
Germline

Chr6:7580172

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA039724

rs_746208168

4 SubmittersRCV001180228 RCV002375070 RCV004006639 RCV003769962

NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)

SNV
Germline

Chr6:7580208

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039829

rs_768628788

4 SubmittersRCV001191164 RCV001863032 RCV004010486 RCV002356860

NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)

SNV
Germline

Chr6:7580211

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039870

rs_547568275

5 SubmittersRCV001191850 RCV001586034 RCV002375114 RCV004010548 RCV003770169

NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)

SNV
Germline

Chr6:7580271

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133969242

rs_747326519

4 SubmittersRCV001177633 RCV001366189 RCV002491510 RCV005562585

NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)

SNV
Germline

Chr6:7580423

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040815

rs_771721410

4 SubmittersRCV001188418 RCV002484029 RCV001229205 RCV002327450

NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)

SNV
Germline

Chr6:7580856

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042353

rs_530647574

4 SubmittersRCV001187157 RCV002559969 RCV002339473 RCV004008678

NM_004415.4(DSP):c.4717G>A (p.Val1573Met)

SNV
Germline

Chr6:7580907

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042601

rs_370171270

5 SubmittersRCV001179359 RCV001260418 RCV002339448 RCV002559763 RCV004006559

NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)

SNV
Germline

Chr6:7580938

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042674

rs_778603023

4 SubmittersRCV001187640 RCV001294282 RCV002339475 RCV004008724

NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)

SNV
Germline

Chr6:7581009

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA043024

rs_750054075

4 SubmittersRCV001177361 RCV002559723 RCV004807321 RCV005562584

NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)

SNV
Germline

Chr6:7581057

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2

Criteria Provided
Conflicting Classifications

CA043191

rs_749679496

4 SubmittersRCV001187353 RCV002339474 RCV003117824 RCV005005060

NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)

SNV
Germline

Chr6:7581186

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043571

rs_758312365

4 SubmittersRCV001183251 RCV001295342 RCV003163431 RCV004008361

NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn)

SNV
Germline

Chr6:7581274

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA043855

rs_758637843

3 SubmittersRCV001185181 RCV004771494 RCV005225283

NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)

SNV
Germline

Chr6:7581313

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043954

rs_372452104

7 SubmittersRCV001180620 RCV001321662 RCV001809989 RCV002497632 RCV004006672 RCV004033052 RCV005232150

NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)

SNV
Germline

Chr6:7581411

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044312

rs_777773801

4 SubmittersRCV001184284 RCV002339466 RCV001372988 RCV004008450

NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)

SNV
Germline

Chr6:7582918

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045444

rs_776728790

3 SubmittersRCV001180773 RCV002558970 RCV003293933

NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)

SNV
Germline

Chr6:7582973

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362689246

rs_1473162721

3 SubmittersRCV001178603 RCV003769929 RCV004807336

NM_004415.4(DSP):c.5795G>A (p.Arg1932His)

SNV
Germline

Chr6:7583057

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045698

rs_770522444

7 SubmittersRCV001186959 RCV001255584 RCV001341458 RCV001773435 RCV002491554 RCV002356854 RCV004008645

NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)

SNV
Germline

Chr6:7583081

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362689483

rs_1430290356

3 SubmittersRCV001183530 RCV003770026 RCV004807380

NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)

SNV
Germline

Chr6:7583317

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046727

rs_771974957

5 SubmittersRCV001181833 RCV002505769 RCV002560814 RCV005550155 RCV004006764

NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)

SNV
Germline

Chr6:7583362

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133974331

rs_1043978096

4 SubmittersRCV001182307 RCV002559018 RCV004008287 RCV004619532

NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)

SNV
Germline

Chr6:7583428

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA046962

rs_780274878

4 SubmittersRCV001179278 RCV001258160 RCV004006555 RCV004702665

NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)

SNV
Germline

Chr6:7583503

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047147

rs_779129603

3 SubmittersRCV001179369 RCV001239254 RCV005328554

NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)

SNV
Germline

Chr6:7583594

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047335

rs_370865499

4 SubmittersRCV001186478 RCV001760139 RCV001247654 RCV002365873

NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp)

SNV
Germline

Chr6:7583602

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA047350

rs_561452524

2 SubmittersRCV001182641 RCV005213490

NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)

SNV
Germline

Chr6:7583647

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA047512

rs_755981187

2 SubmittersRCV001180102 RCV001875971

NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)

SNV
Germline

Chr6:7583773

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA047878

rs_149827779

4 SubmittersRCV001182411 RCV001202360 RCV002365861 RCV002483989

NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)

SNV
Germline

Chr6:7583834

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048017

rs_527888978

4 SubmittersRCV001188554 RCV002560930 RCV004033386 RCV004807422

NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)

SNV
Germline

Chr6:7584209

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048714

rs_765245807

6 SubmittersRCV001186503 RCV001751334 RCV001862935 RCV002484018 RCV004008607

NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)

SNV
Germline

Chr6:7584262

Pathogenic/Likely pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA048886

rs_369482721

4 SubmittersRCV001191443 RCV004807450 RCV002560978 RCV005562591

NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)

SNV
Germline

Chr6:7584379

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA049132

rs_373965771

5 SubmittersRCV001176432 RCV001875813 RCV002365840 RCV002223994 RCV004006298

NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)

SNV
Germline

Chr6:7584385

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133975688

rs_376923069

4 SubmittersRCV001175933 RCV003284016 RCV002558797 RCV004000306

NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn)

SNV
Germline

Chr6:7584612

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362692806

rs_1561703628

4 SubmittersRCV001180737 RCV004006688 RCV003883570 RCV005328557

NM_004415.4(DSP):c.7549G>T (p.Val2517Leu)

SNV
Germline

Chr6:7584811

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA050074

rs_764359340

2 SubmittersRCV001184404 RCV005225280

NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)

SNV
Germline

Chr6:7584905

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133976323

rs_377565339

2 SubmittersRCV001192016 RCV002560136

NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)

SNV
Germline

Chr6:7584929

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133976393

rs_760434412

4 SubmittersRCV001191722 RCV003770165 RCV004010540 RCV004033436

NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)

SNV
Germline

Chr6:7585085

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362693857

rs_777066674

3 SubmittersRCV001191740 RCV005328567 RCV002560128

NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)

SNV
Germline

Chr6:7585114

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050995

rs_376005629

4 SubmittersRCV001192237 RCV001228883 RCV002411723 RCV004010583

NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)

SNV
Germline

Chr6:7585304

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051439

rs_746166372

6 SubmittersRCV001187873 RCV001201646 RCV002411710 RCV004008744 RCV004590181

NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)

SNV
Germline

Chr6:7585306

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051451

rs_772365921

3 SubmittersRCV001177137 RCV002559716 RCV004006368

NM_004415.4(DSP):c.8174G>A (p.Arg2725His)

SNV
Germline

Chr6:7585436

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051686

rs_776674939

3 SubmittersRCV001189331 RCV003770132 RCV004697058

NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)

SNV
Germline

Chr6:7585495

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051894

rs_747284663

5 SubmittersRCV001191846 RCV001509264 RCV001304899 RCV002411720 RCV004010545

NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)

SNV
Germline

Chr6:7585541

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051971

rs_774309765

2 SubmittersRCV001189843 RCV001863005

NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)

SNV
Germline

Chr6:7585760

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA052592

rs_767961179

5 SubmittersRCV001186079 RCV001351445 RCV001565359 RCV002497644 RCV004008577

NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)

SNV
Germline

Chr6:7585852

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052847

rs_764514210

6 SubmittersRCV001182574 RCV001211171 RCV002446996 RCV002497639 RCV004008308 RCV004695129

NM_004415.4(DSP):c.1903+3C>T

SNV
Germline

Chr6:7571587

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA030547

rs_754326012

4 SubmittersRCV001184797 RCV002411700 RCV001216435 RCV004008483

NM_004415.4(DSP):c.1045-3C>T

SNV
Germline

Chr6:7567351

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA026861

rs_765077011

4 SubmittersRCV001191266 RCV001242285 RCV001619897 RCV004010500

NM_004415.4(DSP):c.1420-9G>C

SNV
Germline

Chr6:7569177

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA1139659318

rs_1758956235

2 SubmittersRCV001185940 RCV002559923

NM_004415.4(DSP):c.178G>A (p.Gly60Ser)

SNV
Germline

Chr6:7555725

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA133947976

rs_982933033

5 SubmittersRCV001221330 RCV002402675 RCV002497753 RCV004010740 RCV005408757

NM_004415.4(DSP):c.408T>G (p.Asp136Glu)

SNV
Germline

Chr6:7558250

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA040110

rs_774188472

2 SubmittersRCV001216600 RCV004807466

NM_004415.4(DSP):c.1351C>G (p.Arg451Gly)

SNV
Germline

Chr6:7568521

Pathogenic

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362676532

rs_1057518309

3 SubmittersRCV004994341 RCV001220083 RCV001587242

NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)

SNV
Germline

Chr6:7579761

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362684366

rs_1759359916

2 SubmittersRCV001224537 RCV003486970

NM_004415.4(DSP):c.1522G>A (p.Val508Met)

SNV
Germline

Chr6:7569288

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA028597

rs_751537483

4 SubmittersRCV001207276 RCV003363157 RCV004010660 RCV005236684

NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)

SNV
Germline

Chr6:7580251

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA040018

rs_746333083

4 SubmittersRCV001209817 RCV003163591 RCV004010674

NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)

SNV
Germline

Chr6:7581387

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA044198

rs_138588403

6 SubmittersRCV001206593 RCV002497709 RCV001524336 RCV004010650 RCV004994324 RCV003387974

NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser)

SNV
Germline

Chr6:7585315

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051467

rs_760754021

3 SubmittersRCV001205126 RCV001773458 RCV004010639

NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)

SNV
Germline

Chr6:7585395

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051609

rs_375348086

6 SubmittersRCV001203437 RCV001358523 RCV002491610 RCV002418674 RCV003993679 RCV004010627

NM_004415.4(DSP):c.2794-1G>A

SNV
Germline

Chr6:7576958

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362682156

rs_1759258675

1 SubmittersRCV001205202

NM_004415.4(DSP):c.5380-1G>C

SNV
Germline

Chr6:7582641

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362688492

rs_1759474600

2 SubmittersRCV001210447 RCV004792801

NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)

SNV
Germline

Chr6:7579795

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133968541

rs_374266534

3 SubmittersRCV001238245 RCV002451578 RCV004004874

NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)

SNV
Germline

Chr6:7579874

Conflicting classifications of pathogenicity

6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362684626

rs_765645957

4 SubmittersRCV002484251 RCV001229253 RCV005414583 RCV004004830

NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)

SNV
Germline

Chr6:7580983

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042909

rs_369449858

3 SubmittersRCV004004812 RCV001226449 RCV002339614

NM_004415.4(DSP):c.7396G>A (p.Val2466Met)

SNV
Germline

Chr6:7584658

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA049815

rs_745862520

3 SubmittersRCV001226450 RCV002379866 RCV004004813

NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)

SNV
Germline

Chr6:7585252

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362694211

rs_1260154229

2 SubmittersRCV001238832 RCV002418816

NM_004415.4(DSP):c.8402G>A (p.Arg2801His)

SNV
Germline

Chr6:7585664

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA052230

rs_763712887

4 SubmittersRCV001233157 RCV002447170 RCV003532912 RCV004803588

NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)

SNV
Germline

Chr6:7580563

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133969622

rs_370063434

2 SubmittersRCV001247167 RCV004807486

NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)

SNV
Germline

Chr6:7583348

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA046855

rs_753271305

2 SubmittersRCV001247366 RCV001524096

NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)

SNV
Germline

Chr6:7585180

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA051161

rs_770390645

2 SubmittersRCV001239895 RCV002418821

NM_004415.4(DSP):c.8050A>G (p.Met2684Val)

SNV
Germline

Chr6:7585312

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA051459

rs_147801650

5 SubmittersRCV001239706 RCV001806074 RCV002411883 RCV004004880 RCV002504341

NM_004415.4(DSP):c.8389A>G (p.Ile2797Val)

SNV
Germline

Chr6:7585651

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133977905

rs_1040353645

2 SubmittersRCV001243988 RCV004994367

NM_004415.4(DSP):c.2298-1G>C

SNV
Germline

Chr6:7574656

Likely pathogenic

DSP-related disorder
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362681015

rs_1417627909

2 SubmittersRCV005250155 RCV001225865

NM_004415.4(DSP):c.308G>A (p.Arg103Gln)

SNV
Germline

Chr6:7558150

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037103

rs_775015862

5 SubmittersRCV001251407 RCV001524335 RCV001879822 RCV002480866 RCV001576011

NM_004415.4(DSP):c.1325C>T (p.Ser442Phe)

SNV
Germline

Chr6:7568495

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362676439

rs_1321159751

3 SubmittersRCV001267927 RCV004807492

NM_004415.4(DSP):c.1479G>A (p.Trp493Ter)

SNV
Germline

Chr6:7569245

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362677562

rs_1758962311

2 SubmittersRCV001291543 RCV003770472

NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)

SNV
Germline

Chr6:7568449

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA362676306

rs_1430756602

2 SubmittersRCV001303136 RCV002499564

NM_004415.4(DSP):c.2386A>G (p.Thr796Ala)

SNV
Germline

Chr6:7574745

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3628092

rs_1554107526

3 SubmittersRCV001307821 RCV004005047 RCV004994400

NM_004415.4(DSP):c.2993A>T (p.Asp998Val)

SNV
Germline

Chr6:7578471

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA036499

rs_752344739

2 SubmittersRCV001308880 RCV001806108

NM_004415.4(DSP):c.3011T>C (p.Ile1004Thr)

SNV
Germline

Chr6:7578489

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133965872

rs_910919703

2 SubmittersRCV001307255 RCV005328687

NM_004415.4(DSP):c.4713G>C (p.Gln1571His)

SNV
Germline

Chr6:7580903

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042586

rs_375381133

2 SubmittersRCV001300289 RCV002341592

NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)

SNV
Germline

Chr6:7583225

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA046168

rs_767516148

2 SubmittersRCV001297796 RCV003532930

NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)

SNV
Germline

Chr6:7584880

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050297

rs_761136328

3 SubmittersRCV001294262 RCV004004951 RCV003532926

NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr)

SNV
Germline

Chr6:7585172

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362694045

rs_1229128923

3 SubmittersRCV001299475 RCV004004989 RCV005562662

NM_004415.4(DSP):c.3221C>T (p.Ala1074Val)

SNV
Germline

Chr6:7579411

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037465

rs_745849763

2 SubmittersRCV001323488 RCV004005119

NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)

SNV
Germline

Chr6:7579815

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA362684491

rs_1283110287

4 SubmittersRCV001319666 RCV003532946 RCV004005098 RCV005408829

NM_004415.4(DSP):c.8172G>T (p.Gln2724His)

SNV
Germline

Chr6:7585434

Conflicting classifications of pathogenicity

6 conditions
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA051666

rs_372569211

5 SubmittersRCV002493664 RCV001318235 RCV003987830 RCV001664823 RCV002431906

NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)

SNV
Germline

Chr6:7577860

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA036207

rs_397516929

4 SubmittersRCV001345728 RCV002438798 RCV002493778 RCV004005200

NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)

SNV
Germline

Chr6:7581251

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043795

rs_754404501

3 SubmittersRCV001344542 RCV003284234 RCV004005194

NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)

SNV
Germline

Chr6:7581481

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA044538

rs_767885673

3 SubmittersRCV001348653 RCV002350648 RCV004005223

NM_004415.4(DSP):c.340G>A (p.Ala114Thr)

SNV
Germline

Chr6:7558182

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA038063

rs_751745906

3 SubmittersRCV001368697 RCV001806153 RCV002329379

NM_004415.4(DSP):c.706G>C (p.Asp236His)

SNV
Germline

Chr6:7562760

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133953312

rs_1044634464

2 SubmittersRCV001359539 RCV004034535

NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)

SNV
Germline

Chr6:7570444

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362677992

rs_1267435790

3 SubmittersRCV001359917 RCV003365364 RCV004005267

NM_004415.4(DSP):c.2046C>T (p.Cys682=)

SNV
Germline

Chr6:7571984

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA031477

rs_771674559

5 SubmittersRCV001359032 RCV002420778 RCV004005260 RCV003331134 RCV005403049

NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)

SNV
Germline

Chr6:7577028

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA035822

rs_190421916

5 SubmittersRCV001361158 RCV001524669 RCV001751707 RCV004808026 RCV005330753

NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)

SNV
Germline

Chr6:7580748

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
6 conditions
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041928

rs_780953141

5 SubmittersRCV001370130 RCV001525812 RCV002488156 RCV004728683 RCV005562730

NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)

SNV
Germline

Chr6:7585828

Conflicting classifications of pathogenicity

6 conditions
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA052797

rs_148550678

3 SubmittersRCV002488159 RCV001370318 RCV004006822

NM_004415.4(DSP):c.170+1G>A

SNV
Germline

Chr6:7542086

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362676072

rs_1309931610

4 SubmittersRCV001377393 RCV001664858 RCV002476715 RCV004037630

NM_004415.4(DSP):c.422+2T>G

SNV
Germline

Chr6:7558266

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362671467

rs_2113657846

1 SubmittersRCV001377374

NM_004415.4(DSP):c.423-2A>G

SNV
Germline

Chr6:7559224

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362671933

rs_2113659544

1 SubmittersRCV001377800

NM_004415.4(DSP):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr6:7542000

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362675738

rs_1320349488

1 SubmittersRCV001385662

NM_004415.4(DSP):c.320T>A (p.Leu107Ter)

SNV
Germline

Chr6:7558162

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362671189

rs_2113657559

1 SubmittersRCV001389695

NM_004415.4(DSP):c.894G>A (p.Trp298Ter)

SNV
Germline

Chr6:7565475

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362674545

rs_2113669445

1 SubmittersRCV001386812

NM_004415.4(DSP):c.939+1G>T

SNV
Germline

Chr6:7565521

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362674737

rs_727504443

1 SubmittersRCV001389900

NM_004415.4(DSP):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr6:7568509

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362676483

rs_2113674300

1 SubmittersRCV001383409

NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter)

SNV
Germline

Chr6:7570518

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362678339

rs_1759011966

1 SubmittersRCV001384651

NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter)

SNV
Germline

Chr6:7574178

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362680841

rs_2113683217

1 SubmittersRCV001387449

NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)

SNV
Germline

Chr6:7576300

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362681793

rs_2113686447

2 SubmittersRCV001388830 RCV002432075

NM_004415.4(DSP):c.2650C>T (p.Gln884Ter)

SNV
Germline

Chr6:7576313

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681824

rs_2113686466

1 SubmittersRCV001390676

NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter)

SNV
Germline

Chr6:7579655

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362684120

rs_1759354150

1 SubmittersRCV001383778

NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)

SNV
Germline

Chr6:7579725

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362684281

rs_1759357763

2 SubmittersRCV001388419 RCV002456606

NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter)

SNV
Germline

Chr6:7579929

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362684754

rs_1413961070

3 SubmittersRCV001388733 RCV004796626 RCV004808039

NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr6:7580391

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362685774

rs_774065012

1 SubmittersRCV001382782

NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter)

SNV
Germline

Chr6:7581204

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362687649

rs_786205416

2 SubmittersRCV001384620 RCV005330787

NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter)

SNV
Germline

Chr6:7583068

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362689452

rs_2113698797

1 SubmittersRCV001383370

NM_004415.4(DSP):c.243C>T (p.Cys81=)

SNV
Germline

Chr6:7555790

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133948053

rs_947998304

4 SubmittersRCV001392075 RCV002456611 RCV003532970 RCV004006854

NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)

SNV
Germline

Chr6:7585778

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA052682

rs_750438076

2 SubmittersRCV001416752 RCV001524061

NM_004415.4(DSP):c.1380C>T (p.Pro460=)

SNV
Germline

Chr6:7568550

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA448522083

rs_1451086273

3 SubmittersRCV001495502 RCV004007191 RCV002384824

NM_004415.4(DSP):c.7728T>G (p.Gly2576=)

SNV
Germline

Chr6:7584990

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA448716346

rs_545149894

2 SubmittersRCV001484759 RCV004007157

NM_004415.4(DSP):c.157T>C (p.Ser53Pro)

SNV
Germline

Chr6:7542072

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029045

rs_397516918

3 SubmittersRCV001524456 RCV002568783 RCV005330885

NM_004415.4(DSP):c.2631-3C>T

SNV
Germline

Chr6:7576291

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133964030

rs_1041054817

4 SubmittersRCV001525176 RCV002568807 RCV003487421 RCV004008821

NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)

SNV
Germline

Chr6:7581049

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362687316

rs_1423503309

2 SubmittersRCV001525725 RCV002568820

NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)

SNV
Germline

Chr6:7583035

Pathogenic/Likely pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362689383

rs_2113698710

2 SubmittersRCV001524240 RCV002568059

NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)

SNV
Germline

Chr6:7584308

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA049032

rs_769930190

2 SubmittersRCV001524298 RCV001872028

NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)

SNV
Germline

Chr6:7585292

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051409

rs_749806703

4 SubmittersRCV001524319 RCV004037964 RCV005225405 RCV004007273

NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)

SNV
Germline

Chr6:7580068

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA039424

rs_759823665

3 SubmittersRCV001758366 RCV002544076 RCV003533021

NM_004415.4(DSP):c.256G>C (p.Glu86Gln)

SNV
Germline

Chr6:7555803

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA033982

rs_764993760

3 SubmittersRCV001761439 RCV003772021 RCV004808114

NM_004415.4(DSP):c.1963A>T (p.Ile655Phe)

SNV
Germline

Chr6:7571901

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA030945

rs_148868379

3 SubmittersRCV001769057 RCV004040257 RCV005225483

NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)

SNV
Germline

Chr6:7579933

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362684759

rs_1276847644

3 SubmittersRCV001774720 RCV003772057 RCV003289088

NM_004415.4(DSP):c.2109A>G (p.Thr703=)

SNV
Germline

Chr6:7572047

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA448525626

rs_1351265258

4 SubmittersRCV003772172 RCV005235591 RCV004040825 RCV001786811

NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)

SNV
Germline

Chr6:7584479

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362692500

rs_2113701867

5 SubmittersRCV001788848 RCV001885208 RCV003533029 RCV005564916

NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser)

SNV
Germline

Chr6:7581031

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362687275

rs_1759419529

2 SubmittersRCV001804701 RCV003772235

NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)

SNV
Germline

Chr6:7583608

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047383

rs_777184414

3 SubmittersRCV001805380 RCV001869538 RCV003163944

NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)

SNV
Germline

Chr6:7580025

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362684960

rs_763915365

3 SubmittersRCV001805405 RCV003365454 RCV005213605

NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)

SNV
Germline

Chr6:7584910

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA050364

rs_781151826

3 SubmittersRCV001900902 RCV004804287 RCV003401843

NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly)

SNV
Germline

Chr6:7584824

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050147

rs_758490440

2 SubmittersRCV002014878 RCV004011035

NM_004415.4(DSP):c.944G>T (p.Arg315Leu)

SNV
Germline

Chr6:7566381

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA053329

rs_558825586

2 SubmittersRCV001987364 RCV002442905

NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)

SNV
Germline

Chr6:7580623

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA041510

rs_767339003

3 SubmittersRCV001919092 RCV002331443 RCV004010863

NM_004415.4(DSP):c.2436+1G>A

SNV
Germline

Chr6:7574796

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362681320

rs_2113684305

1 SubmittersRCV001974018

NM_004415.4(DSP):c.5834G>A (p.Arg1945His)

SNV
Germline

Chr6:7583096

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA045886

rs_759516161

4 SubmittersRCV001922429 RCV002359376 RCV004010812 RCV005403132

NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro)

SNV
Germline

Chr6:7583741

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362690879

rs_146642551

3 SubmittersRCV001922464 RCV004010813 RCV005330989

NM_004415.4(DSP):c.5485C>G (p.Leu1829Val)

SNV
Germline

Chr6:7582747

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Conflicting Classifications

CA045055

rs_769284245

3 SubmittersRCV001957326 RCV004010905 RCV004731203

NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)

SNV
Germline

Chr6:7580233

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA039960

rs_767003564

2 SubmittersRCV001963741 RCV004011002

NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)

SNV
Germline

Chr6:7585459

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362694652

rs_1157650702

3 SubmittersRCV001963812 RCV002425338 RCV004011004

NM_004415.4(DSP):c.998G>A (p.Ser333Asn)

SNV
Germline

Chr6:7566435

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA053451

rs_749695729

3 SubmittersRCV001892648 RCV004616830 RCV005403124

NM_004415.4(DSP):c.2877+2T>C

SNV
Germline

Chr6:7577044

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362682341

rs_2113687807

2 SubmittersRCV002046137 RCV004721012

NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter)

SNV
Germline

Chr6:7579754

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362684347

rs_2113692122

1 SubmittersRCV001941744

NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)

SNV
Germline

Chr6:7579974

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362684850

rs_2113692628

2 SubmittersRCV001960606 RCV002344118

NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)

SNV
Germline

Chr6:7583726

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA047762

rs_752740718

3 SubmittersRCV001953270 RCV003533072 RCV004822968

NM_004415.4(DSP):c.2890C>T (p.Gln964Ter)

SNV
Germline

Chr6:7577791

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362682380

rs_2113688859

1 SubmittersRCV001946754

NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)

SNV
Germline

Chr6:7585421

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133977300

rs_367972703

3 SubmittersRCV002049029 RCV002486781 RCV004011179

NM_004415.4(DSP):c.6455G>T (p.Gly2152Val)

SNV
Germline

Chr6:7583717

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133974921

rs_1040120840

3 SubmittersRCV001935704 RCV002361234 RCV004010879

NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter)

SNV
Germline

Chr6:7567849

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362676139

rs_2113673248

1 SubmittersRCV001987624

NM_004415.4(DSP):c.2995G>A (p.Val999Ile)

SNV
Germline

Chr6:7578473

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362682606

rs_1261418744

3 SubmittersRCV002440937 RCV004009217 RCV001937311

NM_004415.4(DSP):c.2297+2T>C

SNV
Germline

Chr6:7574254

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362681008

rs_796218194

1 SubmittersRCV001977530

NM_004415.4(DSP):c.597+1G>A

SNV
Germline

Chr6:7559401

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362672890

rs_2113660108

1 SubmittersRCV001973392

NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)

SNV
Germline

Chr6:7582873

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045361

rs_374844169

3 SubmittersRCV002042514 RCV002346271 RCV005421075

NM_004415.4(DSP):c.1051A>G (p.Met351Val)

SNV
Germline

Chr6:7567360

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not specified

Criteria Provided
Conflicting Classifications

CA362675463

rs_1372435657

3 SubmittersRCV002011073 RCV004011116 RCV004782853

NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)

SNV
Germline

Chr6:7567862

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362676171

rs_142129767

3 SubmittersRCV001971120 RCV002361332 RCV004556845

NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter)

SNV
Germline

Chr6:7580889

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362686964

rs_2113694704

2 SubmittersRCV001930124 RCV004040350

NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)

SNV
Germline

Chr6:7581451

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA044445

rs_763526083

2 SubmittersRCV001891369 RCV002334831

NM_004415.4(DSP):c.1574+1G>C

SNV
Germline

Chr6:7569341

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362677896

rs_1758971797

1 SubmittersRCV002020452

NM_004415.4(DSP):c.2011G>T (p.Glu671Ter)

SNV
Germline

Chr6:7571949

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362680359

rs_2113679972

1 SubmittersRCV001919392

NM_004415.4(DSP):c.522T>A (p.Cys174Ter)

SNV
Germline

Chr6:7559325

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362672541

rs_144781697

1 SubmittersRCV001972184

NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)

SNV
Germline

Chr6:7580364

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA133969348

rs_987487921

2 SubmittersRCV001898430 RCV003533046

NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)

SNV
Germline

Chr6:7569329

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA028725

rs_113378925

3 SubmittersRCV001894578 RCV003533038 RCV004808142

NM_004415.4(DSP):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr6:7559251

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA362672126

rs_2113659637

5 SubmittersRCV001957428 RCV002290802 RCV002331467 RCV004808165 RCV005403152

NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)

SNV
Germline

Chr6:7574710

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362681131

rs_2113684096

2 SubmittersRCV001999943 RCV003170167

NM_004415.4(DSP):c.3718G>C (p.Asp1240His)

SNV
Germline

Chr6:7579908

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362684704

rs_1216670261

2 SubmittersRCV001954297 RCV004990506

NM_004415.4(DSP):c.2533C>T (p.Gln845Ter)

SNV
Germline

Chr6:7575391

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681553

rs_2113685159

1 SubmittersRCV001921709

NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu)

SNV
Germline

Chr6:7583197

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046100

rs_773436512

2 SubmittersRCV001995600 RCV004011054

NM_004415.4(DSP):c.1904-2A>G

SNV
Germline

Chr6:7571840

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362679929

rs_2113679702

1 SubmittersRCV002049821

NM_004415.4(DSP):c.1141-1G>A

SNV
Germline

Chr6:7567780

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362675886

rs_2113673067

1 SubmittersRCV002025113

NM_004415.4(DSP):c.888C>A (p.Tyr296Ter)

SNV
Germline

Chr6:7565469

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362674520

rs_149701627

1 SubmittersRCV001929401

NM_004415.4(DSP):c.2872A>G (p.Ile958Val)

SNV
Germline

Chr6:7577037

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions

Criteria Provided
Conflicting Classifications

CA035866

rs_377116090

2 SubmittersRCV002044330 RCV002482420

NM_004415.4(DSP):c.259C>G (p.Leu87Val)

SNV
Germline

Chr6:7555806

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA034109

rs_377652477

2 SubmittersRCV001925890 RCV004808156

NM_004415.4(DSP):c.939+2T>C

SNV
Germline

Chr6:7565522

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362674739

rs_2113669594

1 SubmittersRCV001966485

NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)

SNV
Germline

Chr6:7580979

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362687162

rs_1259613160

4 SubmittersRCV001963003 RCV002331531 RCV004697174

NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)

SNV
Germline

Chr6:7581181

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA043528

rs_746139953

4 SubmittersRCV002041712 RCV005403117 RCV002343883 RCV004009176

NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)

SNV
Germline

Chr6:7584910

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA050354

rs_781151826

3 SubmittersRCV001948348 RCV002388875 RCV004010927

NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter)

SNV
Germline

Chr6:7583644

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362690678

rs_2113700191

1 SubmittersRCV001949373

NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter)

SNV
Germline

Chr6:7582693

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362688606

rs_2113697854

1 SubmittersRCV001899855

NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter)

SNV
Germline

Chr6:7579629

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362684056

rs_2113691766

1 SubmittersRCV001972534

NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter)

SNV
Germline

Chr6:7583092

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362689506

rs_2113698863

1 SubmittersRCV002047294

NM_004415.4(DSP):c.1080G>A (p.Trp360Ter)

SNV
Germline

Chr6:7567389

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362675595

rs_2113672480

1 SubmittersRCV001892048

NM_004415.4(DSP):c.694C>T (p.Arg232Cys)

SNV
Germline

Chr6:7562748

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA048735

rs_777847026

2 SubmittersRCV001981537 RCV002497828

NM_004415.4(DSP):c.1744G>A (p.Asp582Asn)

SNV
Germline

Chr6:7571425

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA029953

rs_756671027

2 SubmittersRCV001946281 RCV004010939

NM_004415.4(DSP):c.1574+1G>A

SNV
Germline

Chr6:7569341

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362677894

rs_1758971797

2 SubmittersRCV001980690 RCV003395338

NM_004415.4(DSP):c.2877+1G>A

SNV
Germline

Chr6:7577043

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362682337

rs_2113687794

1 SubmittersRCV002040980

NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)

SNV
Germline

Chr6:7575424

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
6 conditions

Criteria Provided
Conflicting Classifications

CA033919

rs_779253041

2 SubmittersRCV001914230 RCV002479431

NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr)

SNV
Germline

Chr6:7582988

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA045609

rs_752360866

2 SubmittersRCV001927998 RCV004010858

NM_004415.4(DSP):c.1267-14A>T

SNV
Germline

Chr6:7568423

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA027359

rs_374439921

2 SubmittersRCV002187841 RCV003533104

NM_004415.4(DSP):c.3424C>T (p.Leu1142=)

SNV
Germline

Chr6:7579614

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA038095

rs_779251147

2 SubmittersRCV002081804 RCV004005426

NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)

SNV
Germline

Chr6:7585283

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051398

rs_778480531

4 SubmittersRCV002223582 RCV003101274 RCV004005540

NM_004415.4(DSP):c.2515C>T (p.His839Tyr)

SNV
Germline

Chr6:7575373

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362681513

rs_1561693806

3 SubmittersRCV002266392 RCV003096032 RCV004005575

NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr6:7583515

Pathogenic

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362690404

rs_2533940144

3 SubmittersRCV002284671 RCV003097671 RCV003365728

NM_004415.4(DSP):c.3393A>G (p.Arg1131=)

SNV
Germline

Chr6:7579583

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA037969

rs_753254231

3 SubmittersRCV002451930 RCV003099448 RCV004005626

NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)

SNV
Germline

Chr6:7580288

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362685554

rs_1430146519

2 SubmittersRCV003094527 RCV002323282

NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)

SNV
Germline

Chr6:7579357

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA037391

rs_771137827

3 SubmittersRCV002322580 RCV003533161 RCV003775061

NM_004415.4(DSP):c.46C>T (p.Arg16Cys)

SNV
Germline

Chr6:7541961

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA042557

rs_754773488

3 SubmittersRCV002335302 RCV003096430 RCV004774662

NM_004415.4(DSP):c.5733G>A (p.Glu1911=)

SNV
Germline

Chr6:7582995

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA448715506

rs_1439469699

2 SubmittersRCV002347740 RCV004005701

NM_004415.4(DSP):c.604A>G (p.Met202Val)

SNV
Germline

Chr6:7562658

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362673112

rs_1184593852

2 SubmittersRCV003103259 RCV002358248

NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)

SNV
Germline

Chr6:7583597

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362690577

rs_1396179636

3 SubmittersRCV002368905 RCV004005724 RCV005227651

NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)

SNV
Germline

Chr6:7580822

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042216

rs_766390243

3 SubmittersRCV002342571 RCV003096389 RCV004808270

NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)

SNV
Germline

Chr6:7580838

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA042319

rs_375917565

2 SubmittersRCV002335060 RCV003096405

NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)

SNV
Germline

Chr6:7581305

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362687888

rs_1276966122

2 SubmittersRCV002351518 RCV003776038

NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)

SNV
Germline

Chr6:7583102

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362689526

rs_1226340631

3 SubmittersRCV003096890 RCV002353286 RCV004005706

NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)

SNV
Germline

Chr6:7583047

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133972315

rs_1044309736

3 SubmittersRCV003776158 RCV002359732 RCV004005704

NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)

SNV
Germline

Chr6:7583060

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362689438

rs_558069434

3 SubmittersRCV003225233 RCV002359797 RCV003103231

NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)

SNV
Germline

Chr6:7583330

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA046788

rs_761605754

3 SubmittersRCV003327565 RCV002358342 RCV003776212

NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)

SNV
Germline

Chr6:7583629

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA047435

rs_372242085

3 SubmittersRCV002369054 RCV003098218 RCV004005725

NM_004415.4(DSP):c.6584A>G (p.His2195Arg)

SNV
Germline

Chr6:7583846

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA048026

rs_144923278

2 SubmittersRCV002364516 RCV005227656

NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)

SNV
Germline

Chr6:7585564

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA133977714

rs_942768771

2 SubmittersRCV002430358 RCV003099901

NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)

SNV
Germline

Chr6:7584467

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362692473

rs_1199008500

2 SubmittersRCV002370879 RCV005227670

NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)

SNV
Germline

Chr6:7585516

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362694770

rs_1350712964

2 SubmittersRCV002412552 RCV005227696

NM_004415.4(DSP):c.7795G>A (p.Val2599Ile)

SNV
Germline

Chr6:7585057

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362693793

rs_1759594471

2 SubmittersRCV002409870 RCV004005757

NM_004415.4(DSP):c.1736C>T (p.Thr579Met)

SNV
Germline

Chr6:7571417

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA029864

rs_765038828

3 SubmittersRCV002407455 RCV003097197 RCV003533234

NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)

SNV
Germline

Chr6:7572012

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA031563

rs_776211500

2 SubmittersRCV002422189 RCV003121025

NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)

SNV
Germline

Chr6:7574728

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362681172

rs_1343729760

3 SubmittersRCV002457749 RCV003775211 RCV005403214

NM_004415.4(DSP):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr6:7565389

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362674078

rs_1225658091

2 SubmittersRCV003060025 RCV004992455

NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)

SNV
Germline

Chr6:7585676

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA052251

rs_761351091

2 SubmittersRCV005235681 RCV003066461

NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)

SNV
Germline

Chr6:7584352

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362692214

rs_1197311272

2 SubmittersRCV004009353 RCV003083329

NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)

SNV
Germline

Chr6:7581415

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362688123

rs_1243531372

2 SubmittersRCV003069624 RCV004808415

NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)

SNV
Germline

Chr6:7585774

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA052658

rs_779102012

2 SubmittersRCV003091723 RCV004009411

NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)

SNV
Germline

Chr6:7584113

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362691699

rs_1273566858

2 SubmittersRCV003085021 RCV003533353

NM_004415.4(DSP):c.2631-14C>G

SNV
Germline

Chr6:7576280

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA133963999

rs_1050258732

2 SubmittersRCV003090194 RCV004009408

NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)

SNV
Germline

Chr6:7579830

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362684529

rs_1376293705

2 SubmittersRCV003080568 RCV004009425

NM_004415.4(DSP):c.1303G>A (p.Val435Met)

SNV
Germline

Chr6:7568473

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362676358

rs_1295277764

3 SubmittersRCV002602791 RCV004009459 RCV004068909

NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)

SNV
Germline

Chr6:7559375

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045617

rs_761969701

3 SubmittersRCV002611303 RCV004009475 RCV003481398

NM_004415.4(DSP):c.7920C>T (p.Gly2640=)

SNV
Germline

Chr6:7585182

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA051169

rs_770447003

2 SubmittersRCV002638283 RCV004009521

NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)

SNV
Germline

Chr6:7583114

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362689549

rs_1210722098

2 SubmittersRCV002624330 RCV003533361

NM_004415.4(DSP):c.7054C>T (p.Gln2352Ter)

SNV
Germline

Chr6:7584316

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362692126

rs_2533943691

2 SubmittersRCV002511378 RCV005227794

NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)

SNV
Germline

Chr6:7575347

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA362681452

rs_1274497690

2 SubmittersRCV003115341 RCV003533813

NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)

SNV
Germline

Chr6:7583234

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA046258

rs_760548186

2 SubmittersRCV003118188 RCV004009574

NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)

SNV
Germline

Chr6:7585222

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362694148

rs_1379150952

1 SubmittersRCV003118502

NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)

SNV
Germline

Chr6:7582751

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362688737

rs_1315179643

2 SubmittersRCV003112974 RCV004621757

NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)

SNV
Germline

Chr6:7567872

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA027266

rs_759316967

3 SubmittersRCV002584412 RCV004617045 RCV004808361

NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)

SNV
Germline

Chr6:7581016

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362687240

rs_1383577532

2 SubmittersRCV002590335 RCV004007503

NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)

SNV
Germline

Chr6:7579844

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA038649

rs_745348393

2 SubmittersRCV002710145 RCV005333317

NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)

SNV
Germline

Chr6:7584047

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362691546

rs_1422731756

2 SubmittersRCV002755452 RCV004007575

NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)

SNV
Germline

Chr6:7575455

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA034101

rs_764965132

2 SubmittersRCV002751086 RCV004007580

NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)

SNV
Germline

Chr6:7575401

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA033839

rs_778056465

3 SubmittersRCV002766564 RCV004990859 RCV004007589

NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)

SNV
Germline

Chr6:7567855

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362676153

rs_377500825

1 SubmittersRCV002824453

NM_004415.4(DSP):c.1420-2A>G

SNV
Germline

Chr6:7569184

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362677302

rs_2533886766

1 SubmittersRCV002834456

NM_004415.4(DSP):c.575T>C (p.Leu192Ser)

SNV
Germline

Chr6:7559378

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA045652

rs_765310938

2 SubmittersRCV002853336 RCV003487044

NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)

SNV
Germline

Chr6:7574134

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362680741

rs_2533903318

1 SubmittersRCV002889431

NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)

SNV
Germline

Chr6:7571527

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362679512

rs_2533894416

1 SubmittersRCV002853002

NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)

SNV
Germline

Chr6:7577818

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362682436

rs_2533917192

1 SubmittersRCV002885162

NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)

SNV
Germline

Chr6:7584295

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA048952

rs_758919943

2 SubmittersRCV002932751 RCV004808384

NM_004415.4(DSP):c.1558G>A (p.Val520Met)

SNV
Germline

Chr6:7569324

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA028691

rs_777545428

2 SubmittersRCV002943621 RCV004068103

NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)

SNV
Germline

Chr6:7579646

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA038121

rs_750557604

2 SubmittersRCV002975176 RCV003533317

NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)

SNV
Germline

Chr6:7571971

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA133960429

rs_112764594

3 SubmittersRCV002928927 RCV004007722 RCV005403255

NM_004415.4(DSP):c.2951T>C (p.Met984Thr)

SNV
Germline

Chr6:7577852

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA362682506

rs_1452300736

2 SubmittersRCV002958853 RCV004617133

NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)

SNV
Germline

Chr6:7583826

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA047989

rs_759929036

2 SubmittersRCV002979670 RCV003533323

NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)

SNV
Germline

Chr6:7582993

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362689292

rs_2533937328

1 SubmittersRCV003028099

NM_004415.4(DSP):c.1701+2T>C

SNV
Germline

Chr6:7570565

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362678554

rs_2533890784

1 SubmittersRCV003021648

NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)

SNV
Germline

Chr6:7575388

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362681545

rs_2533908578

1 SubmittersRCV002996882

NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)

SNV
Germline

Chr6:7574182

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362680850

rs_2533903647

1 SubmittersRCV003029126

NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)

SNV
Germline

Chr6:7567889

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362676230

rs_2533882036

1 SubmittersRCV003024343

NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)

SNV
Germline

Chr6:7583041

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362689397

rs_794728104

1 SubmittersRCV003064175

NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)

SNV
Germline

Chr6:7571470

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362679120

rs_2533894106

1 SubmittersRCV003048292

NM_004415.4(DSP):c.1575-5C>T

SNV
Germline

Chr6:7570432

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA1608626085

rs_1759007844

2 SubmittersRCV003182725 RCV004009653

NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)

SNV
Germline

Chr6:7580868

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362686918

rs_773320949

2 SubmittersRCV003485901 RCV005216049

NM_004415.4(DSP):c.7756C>T (p.Arg2586Ter)

SNV
Germline

Chr6:7585018

Pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362693711

rs_1420689736

2 SubmittersRCV003332461 RCV005228002

NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)

SNV
Germline

Chr6:7576994

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA133964632

rs_986339609

2 SubmittersRCV003360852 RCV005228018

NM_004415.4(DSP):c.82T>C (p.Tyr28His)

SNV
Germline

Chr6:7541997

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362675721

rs_766454930

2 SubmittersRCV003436480 RCV005220706

NM_004415.4(DSP):c.422+1G>A

SNV
Germline

Chr6:7558265

Likely pathogenic

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362671460

rs_2533849798

2 SubmittersRCV003444540 RCV003778490

NM_004415.4(DSP):c.1089G>C (p.Gln363His)

SNV
Germline

Chr6:7567398

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026949

rs_751246453

4 SubmittersRCV003533682 RCV004011621 RCV003779359 RCV005422368

NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr6:7567447

Likely pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362675827

rs_1758896473

2 SubmittersRCV003533683 RCV004011622

NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)

SNV
Germline

Chr6:7581489

Pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362688286

rs_2533932461

2 SubmittersRCV003533735 RCV004011635

NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)

SNV
Germline

Chr6:7583438

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362690242

rs_1263298339

3 SubmittersRCV003533749 RCV004011638 RCV005220756

NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)

SNV
Germline

Chr6:7583744

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362690886

rs_1286181726

2 SubmittersRCV003533757 RCV003779367

NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)

SNV
Germline

Chr6:7584700

Likely pathogenic

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA362693005

rs_2533945847

2 SubmittersRCV003533772 RCV004011642

NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)

SNV
Germline

Chr6:7585605

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA052088

rs_755270593

3 SubmittersRCV003533790 RCV003779371 RCV004011644

NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)

SNV
Germline

Chr6:7571851

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362679986

rs_2533896147

1 SubmittersRCV003785299

NM_004415.4(DSP):c.3501G>A (p.Lys1167=)

SNV
Germline

Chr6:7579691

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA448714191

rs_1181074160

2 SubmittersRCV003785319 RCV004005934

NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)

SNV
Germline

Chr6:7583139

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA133972604

rs_201774541

1 SubmittersRCV003781043

NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)

SNV
Germline

Chr6:7577792

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362682381

rs_1204839587

2 SubmittersRCV003781833 RCV004805603

NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)

SNV
Germline

Chr6:7574111

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA032055

rs_753970789

2 SubmittersRCV004005940 RCV003780321

NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)

SNV
Germline

Chr6:7579401

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362683306

rs_2533922607

2 SubmittersRCV003788746 RCV004366539

NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)

SNV
Germline

Chr6:7583290

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA046623

rs_781724800

2 SubmittersRCV003789048 RCV004621898

NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)

SNV
Germline

Chr6:7580118

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362685160

rs_1165211827

3 SubmittersRCV003792865 RCV003994587 RCV004787019

NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)

SNV
Germline

Chr6:7579731

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362684297

rs_2533924243

1 SubmittersRCV003790457

NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)

SNV
Germline

Chr6:7580863

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042442

rs_762105733

3 SubmittersRCV003788698 RCV004366536 RCV004005959

NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)

SNV
Germline

Chr6:7575396

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681564

rs_765837163

1 SubmittersRCV003806404

NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)

SNV
Germline

Chr6:7575386

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362681541

rs_1057518920

1 SubmittersRCV003806714

NM_004415.4(DSP):c.292G>T (p.Gly98Ter)

SNV
Germline

Chr6:7558134

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362671139

rs_2533848937

1 SubmittersRCV003792101

NM_004415.4(DSP):c.582G>A (p.Trp194Ter)

SNV
Germline

Chr6:7559385

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362672846

rs_1345570966

1 SubmittersRCV003805542

NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)

SNV
Germline

Chr6:7580016

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362684938

rs_1487309339

1 SubmittersRCV003805870

NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)

SNV
Germline

Chr6:7576366

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681946

rs_1057519251

1 SubmittersRCV003803774

NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)

SNV
Germline

Chr6:7567849

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362676140

rs_2113673248

1 SubmittersRCV003799342

NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)

SNV
Germline

Chr6:7574233

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA362680961

rs_1255988475

2 SubmittersRCV003803092 RCV004805609

NM_004415.4(DSP):c.829C>T (p.Gln277Ter)

SNV
Germline

Chr6:7565410

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362674213

rs_2533872220

1 SubmittersRCV003803175

NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)

SNV
Germline

Chr6:7575379

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362681527

rs_1759206117

1 SubmittersRCV003800855

NM_004415.4(DSP):c.777+2T>C

SNV
Germline

Chr6:7563788

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362673771

rs_2533867187

1 SubmittersRCV003794457

NM_004415.4(DSP):c.1702-1G>T

SNV
Germline

Chr6:7571382

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362678878

rs_2533893337

1 SubmittersRCV003797029

NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)

SNV
Germline

Chr6:7569207

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362677402

rs_1758958794

1 SubmittersRCV003800224

NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)

SNV
Germline

Chr6:7541999

Pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362675731

rs_2533800954

1 SubmittersRCV003800426

NM_004415.4(DSP):c.1045-1G>C

SNV
Germline

Chr6:7567353

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362675437

rs_2533879486

1 SubmittersRCV003800491

NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)

SNV
Germline

Chr6:7582910

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362689095

rs_1418959797

1 SubmittersRCV003804901

NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)

SNV
Germline

Chr6:7568446

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362676299

rs_775308893

1 SubmittersRCV003802022

NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)

SNV
Germline

Chr6:7566479

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362674989

rs_2533876551

2 SubmittersRCV003815410 RCV004621911

NM_004415.4(DSP):c.1903+1G>T

SNV
Germline

Chr6:7571585

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362679871

rs_1554107107

1 SubmittersRCV003813019

NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)

SNV
Germline

Chr6:7582813

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362688870

rs_2533936385

1 SubmittersRCV003813079

NM_004415.4(DSP):c.897C>A (p.Ser299Arg)

SNV
Germline

Chr6:7565478

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA362674567

rs_121912992

2 SubmittersRCV003813313 RCV005567654

NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)

SNV
Germline

Chr6:7580652

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362686368

rs_2533928788

1 SubmittersRCV003807338

NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)

SNV
Germline

Chr6:7580046

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362685005

rs_2533926317

3 SubmittersRCV003807347 RCV004805612 RCV003988151

NM_004415.4(DSP):c.698G>A (p.Trp233Ter)

SNV
Germline

Chr6:7562752

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362673575

rs_2533863740

1 SubmittersRCV003812629

NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)

SNV
Germline

Chr6:7585402

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362694522

rs_2533949772

1 SubmittersRCV003805124

NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)

SNV
Germline

Chr6:7580442

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362685891

rs_763652056

1 SubmittersRCV003805130

NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)

SNV
Germline

Chr6:7581141

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA362687518

rs_2533931043

1 SubmittersRCV003810246

NM_004415.4(DSP):c.6792C>A (p.Tyr2264Ter)

SNV
Germline

Chr6:7584054

Pathogenic

DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

CA16622021

rs_2533942752

2 SubmittersRCV003894356 RCV005220789

NM_004415.4(DSP):c.855G>A (p.Trp285Ter)

SNV
Germline

Chr6:7565436

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362674365

rs_2533872416

1 SubmittersRCV004015053

NM_004415.4(DSP):c.5665G>T (p.Glu1889Ter)

SNV
Germline

Chr6:7582927

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362689136

rs_2533936922

1 SubmittersRCV004013997

NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)

SNV
Germline

Chr6:7583299

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA046650

rs_756529985

3 SubmittersRCV004007821 RCV004621952 RCV005216165

NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)

SNV
Germline

Chr6:7583827

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
not specified

Criteria Provided
Conflicting Classifications

CA362691069

rs_767661570

3 SubmittersRCV004013377 RCV005220837 RCV005407300

NM_004415.4(DSP):c.5119C>T (p.Gln1707Ter)

SNV
Germline

Chr6:7581309

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA362687895

rs_2533931655

2 SubmittersRCV004013427 RCV005250334

NM_004415.4(DSP):c.6808C>T (p.Gln2270Ter)

SNV
Germline

Chr6:7584070

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362691599

rs_2533942793

1 SubmittersRCV004013467

NM_004415.4(DSP):c.202C>T (p.Gln68Ter)

SNV
Germline

Chr6:7555749

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA362670701

rs_2533842147

2 SubmittersRCV004012781 RCV005216184

NM_004415.4(DSP):c.7546A>C (p.Arg2516=)

SNV
Germline

Chr6:7584808

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA448716409

rs_1304859870

2 SubmittersRCV004011948 RCV005216175

NM_004415.4(DSP):c.3889C>T (p.Gln1297Ter)

SNV
Germline

Chr6:7580079

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

CA362685076

rs_1356287373

1 SubmittersRCV004016917

NM_004415.4(DSP):c.90G>A (p.Val30=)

SNV
Germline

Chr6:7542005

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA448529313

rs_2533800992

2 SubmittersRCV004009790 RCV005216167

NM_004415.4(DSP):c.505G>T (p.Gly169Cys)

SNV
Germline

Chr6:7559308

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Conflicting Classifications

CA362672452

rs_1184706017

2 SubmittersRCV004016251 RCV005216173

NM_004415.4(DSP):c.7111C>T (p.Gln2371Ter)

SNV
Germline

Chr6:7584373

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

1 SubmittersRCV004806625

NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)

SNV
Germline

Chr6:7584557

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004806628 RCV005221101 RCV005403449

NM_004415.4(DSP):c.1420-1G>A

SNV
Germline

Chr6:7569185

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Single Submitter

1 SubmittersRCV005219644

NM_004415.4(DSP):c.597+2T>C

SNV
Germline

Chr6:7559402

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005217582

NM_004415.4(DSP):c.1903+5G>T

SNV
Germline

Chr6:7571589

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005219773 RCV005235794

NM_004415.4(DSP):c.2601G>A (p.Trp867Ter)

SNV
Germline

Chr6:7575459

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005215346

NM_004415.4(DSP):c.5146G>T (p.Glu1716Ter)

SNV
Germline

Chr6:7581336

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005215545

NM_004415.4(DSP):c.2735T>A (p.Leu912Ter)

SNV
Germline

Chr6:7576398

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005212911

NM_004415.4(DSP):c.2161G>T (p.Glu721Ter)

SNV
Germline

Chr6:7574116

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005212943

NM_004415.4(DSP):c.620G>A (p.Trp207Ter)

SNV
Germline

Chr6:7562674

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005228527

NM_004415.4(DSP):c.4219G>T (p.Glu1407Ter)

SNV
Germline

Chr6:7580409

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005221461

NM_004415.4(DSP):c.2854G>T (p.Glu952Ter)

SNV
Germline

Chr6:7577019

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005218645

NM_004415.4(DSP):c.2086C>T (p.Gln696Ter)

SNV
Germline

Chr6:7572024

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005212271

NM_004415.4(DSP):c.1701+2T>A

SNV
Germline

Chr6:7570565

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005212508

NM_004415.4(DSP):c.5375T>A (p.Leu1792Ter)

SNV
Germline

Chr6:7581565

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005220606

NM_004415.4(DSP):c.1482C>A (p.Tyr494Ter)

SNV
Germline

Chr6:7569248

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005226362

NM_004415.4(DSP):c.1478G>A (p.Trp493Ter)

SNV
Germline

Chr6:7569244

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005210386

NM_004415.4(DSP):c.4324C>T (p.Gln1442Ter)

SNV
Germline

Chr6:7580514

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005220139

NM_004415.4(DSP):c.79C>T (p.Arg27Cys)

SNV
Germline

Chr6:7541994

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005220285 RCV005559923

NM_004415.4(DSP):c.5783T>G (p.Leu1928Ter)

SNV
Germline

Chr6:7583045

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005220440

NM_004415.4(DSP):c.7470T>G (p.Tyr2490Ter)

SNV
Germline

Chr6:7584732

Pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005229303

NM_004415.4(DSP):c.418A>T (p.Lys140Ter)

SNV
Germline

Chr6:7558260

Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Keratosis palmoplantaris striata 2

Criteria Provided
Single Submitter

1 SubmittersRCV005360417