Variants with conflicting interpretations studied for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Minimum review status of the submission for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis:		Collection method of the submission for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
13	85	0	14	137	0	0	151

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis		pathogenic	likely benign	benign
	likely pathogenic	5	0	0
	uncertain significance	0	122	15
	likely benign	0	0	7
	benign	0	2	0

Condition to condition summary #

Total conditions: 2

Download table as spreadsheet

Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	0	85	0	12	137	0	0	149
Woolly hair-skin fragility syndrome	0	18	0	6	2	0	0	8

All variants with conflicting interpretations #

Total variants: 151

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	rs78652302	0.00908
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)	rs34884895	0.00701
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	rs28763961	0.00618
NM_004415.4(DSP):c.105G>A (p.Gly35=)	rs77445784	0.00587
NM_004415.4(DSP):c.2630+18C>T	rs145963404	0.00475
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	rs145933612	0.00143
NM_004415.4(DSP):c.522T>C (p.Cys174=)	rs144781697	0.00124
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)	rs28763971	0.00077
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)	rs375891215	0.00043
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)	rs113967308	0.00034
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	rs148147581	0.00026
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)	rs370093129	0.00019
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)	rs141834182	0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)	rs146642551	0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)	rs369682599	0.00016
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)	rs202025438	0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	rs140965835	0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)	rs377507763	0.00014
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)	rs111368396	0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)	rs141508330	0.00013
NM_004415.4(DSP):c.2134G>A (p.Val712Met)	rs397516922	0.00012
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)	rs181378432	0.00011
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)	rs751361395	0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)	rs144641271	0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	rs149513743	0.00010
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)	rs372922674	0.00009
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)	rs778506459	0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)	rs1431507005	0.00008
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)	rs747580402	0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)	rs139673146	0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)	rs372569211	0.00007
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)	rs773113261	0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)	rs2491079	0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)	rs753270443	0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)	rs112242645	0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)	rs200745877	0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)	rs138588403	0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)	rs149827779	0.00006
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)	rs749820299	0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)	rs751849031	0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)	rs367759510	0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)	rs374262024	0.00005
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	rs140403872	0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)	rs751067479	0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	rs367752002	0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)	rs374263890	0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)	rs765645957	0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)	rs746482538	0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)	rs775594375	0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)	rs748109826	0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)	rs727505037	0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)	rs768577891	0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)	rs780224658	0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)	rs770522444	0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)	rs767259019	0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)	rs549451471	0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)	rs537588390	0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)	rs753033333	0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)	rs764514210	0.00004
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)	rs141163578	0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	rs755492444	0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)	rs764951792	0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)	rs557966264	0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)	rs779253041	0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)	rs147909031	0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)	rs747326519	0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)	rs141805096	0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)	rs374090050	0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)	rs768837509	0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)	rs771553674	0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)	rs760215987	0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)	rs773685575	0.00003
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)	rs757208743	0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)	rs202194206	0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)	rs372467697	0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)	rs749051278	0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)	rs376555665	0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)	rs771721410	0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)	rs587782940	0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)	rs749679496	0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	rs34738426	0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)	rs372393122	0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)	rs869025397	0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)	rs397516972	0.00002
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)	rs746245682	0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)	rs763523373	0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)	rs397516916	0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)	rs1430756602	0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)	rs1037212969	0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)	rs1230995902	0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)	rs375629257	0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)	rs749238502	0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His)	rs372906646	0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)	rs1008407158	0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)	rs759869347	0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)	rs727502999	0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)	rs745641212	0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)	rs377116090	0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)	rs397516929	0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)	rs772551736	0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)	rs775015862	0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	rs762238621	0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)	rs761331634	0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)	rs777763456	0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	rs201133637	0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)	rs144465638	0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)	rs530481219	0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)	rs751972271	0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)	rs750607476	0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)	rs372452104	0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)	rs759443302	0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)	rs377035113	0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)	rs372242085	0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)	rs1233981969	0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)	rs759982048	0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)	rs772381363	0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)	rs765245807	0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)	rs1561703331	0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)	rs1464253797	0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)	rs751712837	0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)	rs1301635888	0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)	rs151309106	0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)	rs147801650	0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)	rs375348086	0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)	rs367972703	0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)	rs139969658	0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)	rs767961179	0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)	rs148550678	0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val)	rs201672777	0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)	rs117961973	0.00001
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)	rs780626687
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)	rs982933033
NM_004415.4(DSP):c.2436+16A>G	rs199555263
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)	rs1393048121
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)	rs780823789
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)	rs371234425
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)	rs367763339
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)	rs876657795
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)	rs138599871
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)	rs1561698362
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)	rs780953141
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)	rs752387234
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)	rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His)	rs397516944
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)	rs771974957
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)	rs374090050
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)	rs1561702640
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)	rs746533703
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)	rs376185352
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)	rs777847026
NM_004415.4(DSP):c.928dup (p.Glu310fs)	rs794728137

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