ClinVar Miner

Variants with conflicting interpretations studied for Dilated Cardiomyopathy, Dominant

Coded as:
Minimum review status of the submission for Dilated Cardiomyopathy, Dominant: Collection method of the submission for Dilated Cardiomyopathy, Dominant:
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 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
502 180 0 75 115 0 3 181

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, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 1 0 86 53
likely benign 0 0 18 0 66
benign 0 0 4 10 0

Condition to condition summary #

Total conditions: 20
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
not specified 0 59 0 58 75 0 0 130
not provided 0 50 0 56 76 0 2 129
Cardiovascular phenotype 0 40 0 21 44 0 0 65
TTN-related disorder 0 1 0 0 10 0 0 10
ANKRD1-related dilated cardiomyopathy 0 0 0 2 6 0 0 7
MYH7-related disorder 0 3 0 4 1 0 0 5
ACTC1-related disorder 0 0 0 0 3 0 0 3
Dilated Cardiomyopathy, Dominant 856 4 0 1 2 0 0 3
DSG2-related disorder 0 0 0 0 2 0 0 2
Left ventricular noncompaction cardiomyopathy 0 149 0 1 1 0 0 2
ANKRD1-related disorder 0 0 0 0 1 0 0 1
BAG3-related disorder 0 0 0 1 0 0 0 1
CHRM2-related disorder 0 0 0 1 0 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
LDB3-related disorder 0 0 0 0 1 0 0 1
LRRC10-related disorder 0 0 0 1 0 0 0 1
SCN5A-related disorder 0 0 0 0 1 0 0 1
Supraventricular tachycardia 0 0 0 0 1 0 0 1
TNNT2-related disorder 0 0 0 0 1 0 0 1
Tip-toe gait 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_201550.4(LRRC10):c.360C>T (p.Leu120=) rs145823585 0.00793
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_201550.4(LRRC10):c.584T>C (p.Ile195Thr) rs151080979 0.00397
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001330.5(CTF1):c.591C>G (p.Pro197=) rs397516652 0.00208
NM_201550.4(LRRC10):c.521T>C (p.Leu174Pro) rs146361892 0.00196
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_201550.4(LRRC10):c.768G>A (p.Ala256=) rs148566929 0.00056
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_201550.4(LRRC10):c.29C>T (p.Ala10Val) rs201435560 0.00053
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_201550.4(LRRC10):c.453C>T (p.Ala151=) rs12229290 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp) rs143952141 0.00031
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_201550.4(LRRC10):c.149C>T (p.Ser50Phe) rs141358220 0.00029
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_001330.5(CTF1):c.145-13C>T rs397516646 0.00013
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro) rs1467275471 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_014000.3(VCL):c.45G>A (p.Pro15=) rs775062250 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_001330.5(CTF1):c.145-10G>A rs397516645 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001330.5(CTF1):c.83G>A (p.Arg28His) rs201703547 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_201550.4(LRRC10):c.195T>C (p.Asn65=) rs552658459 0.00001
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000337.6(SGCD):c.*4340_*4341dup rs556887176
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_004100.5(EYA4):c.*1142del rs886061091
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_014391.3(ANKRD1):c.346-12_346-11insTATA rs766545285
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014391.3(ANKRD1):c.652-13del rs3839929
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_144573.4(NEXN):c.*4CT[1] rs553696163

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