ClinVar Miner

Variants with conflicting interpretations studied for Left ventricular noncompaction cardiomyopathy

Coded as:
Minimum review status of the submission for Left ventricular noncompaction cardiomyopathy: Collection method of the submission for Left ventricular noncompaction cardiomyopathy:
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
46 116 0 66 63 0 11 129

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
Left ventricular noncompaction cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 3 0 0
likely pathogenic 3 0 6 0 0
uncertain significance 1 0 0 47 23
likely benign 0 1 11 0 54
benign 0 0 3 3 0

Condition to condition summary #

Total conditions: 14
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 provided 0 46 0 50 44 0 8 96
not specified 0 23 0 46 34 0 4 82
Cardiovascular phenotype 0 62 0 25 23 0 4 52
MYH7-related condition 0 5 0 3 1 0 0 4
ACTC1-related condition 0 0 0 0 3 0 0 3
Dilated Cardiomyopathy, Dominant 0 149 0 1 1 0 0 2
Cardiac arrhythmia 0 0 0 1 0 0 0 1
DMD-related condition 0 0 0 0 1 0 0 1
DSP-related condition 0 0 0 0 1 0 0 1
LDB3-related condition 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 286 4 0 0 1 0 0 1
MYBPC3-related condition 0 0 0 1 0 0 0 1
Myofibrillar Myopathy, Dominant 0 22 0 0 1 0 0 1
TNNT2-related condition 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
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_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
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_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
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_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
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_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
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_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
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_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 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_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 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.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 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_001276345.2(TNNT2):c.720-5T>G rs730881092 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_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 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_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 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_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
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.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
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_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_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621

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