ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8: Y axis collection method of the submission for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
220 128 0 79 67 0 4 131

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
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 2 0 24 0
likely benign 0 0 27 0 9
benign 1 1 16 58 0

Condition to condition summary #

Total conditions: 18
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 99 0 36 39 0 0 67
Arrhythmogenic right ventricular cardiomyopathy 0 25 0 47 22 0 0 66
Epidermolysis bullosa, lethal acantholytic 0 22 0 43 14 0 1 58
Ectodermal dysplasia skin fragility syndrome 0 22 0 43 14 0 0 57
Skin fragility woolly hair syndrome 0 22 0 43 14 0 0 57
not provided 0 89 0 16 13 0 1 30
Cardiomyopathy 0 85 0 21 7 0 1 28
Cardiovascular phenotype 0 62 0 18 9 0 1 28
Primary familial hypertrophic cardiomyopathy 0 3 0 0 4 0 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 5 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 1 1 0 0 2
Cardiac arrest 0 0 0 1 0 0 0 1
DSP-Related Disorders 0 0 0 1 0 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0 3 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 4 0 0 1 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 0 0 1 0 0 1
Right ventricular cardiomyopathy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 131
Download table as spreadsheet
HGVS dbSNP
NM_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.2(DSP):c.1140+6T>C rs534740669
NM_004415.2(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.2(DSP):c.1266+6G>T rs73375345
NM_004415.2(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.2(DSP):c.1344G>A (p.Leu448=) rs138226280
NM_004415.2(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.2(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.2(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.2(DSP):c.2247A>G (p.Leu749=) rs28763963
NM_004415.2(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.2(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.2(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.2(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.2(DSP):c.2986-6T>A rs144748036
NM_004415.2(DSP):c.3018A>G (p.Leu1006=) rs375412541
NM_004415.2(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.2(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.2(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.2(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.2(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.2(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.2(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.2(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.2(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.2(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.2(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.2(DSP):c.4320G>A (p.Val1440=) rs571103583
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.2(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.2(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.2(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.2(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.2(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.2(DSP):c.4882_4886delAGGAGinsTTCT (p.Arg1628Phefs) rs1554108410
NM_004415.2(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.2(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.2(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.522T>C (p.Cys174=) rs144781697
NM_004415.2(DSP):c.5304G>C (p.Gly1768=) rs530612211
NM_004415.2(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.2(DSP):c.5523A>C (p.Ser1841=) rs730882116
NM_004415.2(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.2(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.2(DSP):c.5680_5683delAGTC (p.Ser1894Leufs) rs774763657
NM_004415.2(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.2(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.2(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.2(DSP):c.6655G>A (p.Val2219Ile) rs397516953
NM_004415.2(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.2(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.2(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.2(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.2(DSP):c.727-10T>G rs375327581
NM_004415.2(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.2(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004415.2(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.2(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.2(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.7995G>A (p.Thr2665=) rs35379048
NM_004415.2(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.2(DSP):c.8117_8119delAGA (p.Lys2706del) rs397516962
NM_004415.2(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.2(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.2(DSP):c.8268A>C (p.Ile2756=) rs397516963
NM_004415.2(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.2(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.2(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.2(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.2(DSP):c.928dupG (p.Glu310Glyfs) rs794728137
NM_004415.2(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.3(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.1731G>A (p.Met577Ile) rs794728101
NM_004415.3(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.3(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.3(DSP):c.1903+3delC rs1064793548
NM_004415.3(DSP):c.1903+7T>C rs28763962
NM_004415.3(DSP):c.2023A>G (p.Ile675Val) rs142619902
NM_004415.3(DSP):c.2037A>G (p.Ile679Met) rs151049942
NM_004415.3(DSP):c.237C>T (p.Ser79=) rs146521568
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.3(DSP):c.273+10C>T rs56148603
NM_004415.3(DSP):c.2866A>T (p.Asn956Tyr) rs397516928
NM_004415.3(DSP):c.3646A>G (p.Ile1216Val) rs199795359
NM_004415.3(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.3(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.3(DSP):c.5316T>C (p.Asp1772=) rs376186141
NM_004415.3(DSP):c.5460dup (p.Val1821Serfs) rs1554108609
NM_004415.3(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.3(DSP):c.5631T>C (p.Ala1877=) rs1231651139
NM_004415.3(DSP):c.598-4G>A rs747448946
NM_004415.3(DSP):c.6091_6092delTT (p.Leu2031Glyfs) rs397514040
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6319G>C (p.Val2107Leu) rs144263721
NM_004415.3(DSP):c.6351T>C (p.Asp2117=) rs148743859
NM_004415.3(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.3(DSP):c.6753G>A (p.Lys2251=) rs750294829
NM_004415.3(DSP):c.6799A>T (p.Thr2267Ser) rs181378432
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.3(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004415.3(DSP):c.782C>T (p.Ala261Val) rs139509870
NM_004415.3(DSP):c.8188delC (p.Gln2730Serfs) rs886038929
NM_004415.3(DSP):c.8472_8483delGTCCCGCTCCGG (p.Ser2843_Arg2846del) rs397516967
NM_004415.3(DSP):c.8487_8498delCCGCTCGGGATC (p.Ser2843_Arg2846del) rs727504704
NM_004415.3(DSP):c.8529_8540delTGGGTCCCGGAG (p.Ser2843_Arg2846del) rs794728151

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