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: Y axis 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 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
65 203 0 72 62 0 4 126

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 2 0 43 15
likely benign 0 1 18 0 68
benign 1 0 1 2 0

Condition to condition summary #

Total conditions: 39
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 37 0 64 41 0 0 103
Cardiomyopathy 0 25 0 43 19 0 0 62
Cardiovascular phenotype 0 29 0 32 16 0 1 49
Hypertrophic cardiomyopathy 0 214 0 29 19 0 1 49
not provided 0 28 0 13 13 0 1 27
Familial hypertrophic cardiomyopathy 4 0 2 0 12 1 0 2 15
Primary familial hypertrophic cardiomyopathy 0 4 0 4 5 0 2 10
Myofibrillar myopathy, ZASP-related 0 20 0 5 2 0 0 7
Familial hypertrophic cardiomyopathy 1 0 4 0 1 2 0 2 5
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 3 0 3 2 0 0 5
3-Methylglutaconic aciduria type 2 0 7 0 3 1 0 0 4
Dilated Cardiomyopathy, Dominant 0 281 0 1 3 0 0 4
Left ventricular noncompaction 1 0 2 0 4 0 0 0 4
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 1 2 0 0 3
Primary dilated cardiomyopathy 0 2 0 2 1 0 0 3
Atrial septal defect 0 83 0 1 1 0 0 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 1 0 0 2 0 0 2
Arrhythmia 0 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 0 1
Brugada syndrome 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1JJ 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 1 0 1 0 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 0 0 1 0 0 1
Ectodermal dysplasia skin fragility syndrome 0 0 0 0 1 0 0 1
Epidermolysis bullosa, lethal acantholytic 0 0 0 0 1 0 0 1
Familial cardiomyopathy 0 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 0 1 0 0 0 1
Familial restrictive cardiomyopathy 0 101 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 391 2 0 0 1 0 0 1
MYBPC3-Related Disorders 0 0 0 0 0 0 1 1
Myofibrillar Myopathy, Dominant 0 26 0 0 1 0 0 1
Myofibrillar myopathy 1 0 0 0 0 1 0 0 1
Myopathy, distal, 1 0 92 0 1 0 0 0 1
Scapuloperoneal weakness 0 0 0 0 1 0 0 1
Skin fragility woolly hair syndrome 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 126
Download table as spreadsheet
HGVS dbSNP
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.506-12delC rs11570050
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.927-10C>T rs201078659
NM_000257.2(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.3(MYH7):c.*113G>A rs17794387
NM_000257.3(MYH7):c.*20G>A rs45548631
NM_000257.3(MYH7):c.1000-7C>T rs200129563
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.3(MYH7):c.1749C>T (p.Ala583=) rs758665829
NM_000257.3(MYH7):c.1983C>T (p.Asn661=) rs146474860
NM_000257.3(MYH7):c.2028T>C (p.Asn676=) rs145564868
NM_000257.3(MYH7):c.2349C>T (p.Arg783=) rs139882431
NM_000257.3(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.3(MYH7):c.2692C>T (p.Leu898=) rs727504407
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.3564T>C (p.Thr1188=) rs45587932
NM_000257.3(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.3(MYH7):c.3972+15C>T rs3729820
NM_000257.3(MYH7):c.4158C>T (p.Leu1386=) rs886050418
NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.3(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.3(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.3(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
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.5704G>C (p.Glu1902Gln) rs187073962
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000364.3(TNNT2):c.294+7G>A rs45490292
NM_001001430.1(TNNT2):c.53-11_53-7delCTTCT rs45533739
NM_001001430.2(TNNT2):c.133+12G>A rs45580032
NM_001001430.2(TNNT2):c.207G>A (p.Ser69=) rs3729845
NM_001001430.2(TNNT2):c.240C>G (p.Pro80=) rs140245123
NM_001001430.2(TNNT2):c.318C>T (p.Ile106=) rs3729547
NM_001001430.2(TNNT2):c.444G>C (p.Arg148=) rs35914325
NM_001001430.2(TNNT2):c.52+7G>A rs374443596
NM_001001430.2(TNNT2):c.662T>C (p.Ile221Thr) rs45520032
NM_001001430.2(TNNT2):c.690-5T>G rs730881092
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001080114.1(LDB3):c.345-15G>A rs113445294
NM_001080114.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080114.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.322-14C>T rs754704023
NM_001080116.1(LDB3):c.456G>A (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.548+7G>A rs754174632
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001105206.2(LAMA4):c.1962G>A (p.Ala654=) rs140246538
NM_001171610.1(LDB3):c.466G>A (p.Ala156Thr) rs200596619
NM_001198938.1(DTNA):c.1086-10210T>C rs41274310
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) rs199867593
NM_001390.4(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_001927.3(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_002471.3(MYH6):c.-64G>C rs79618123
NM_004006.2(DMD):c.1337A>G (p.His446Arg) rs72468699
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_005159.4(ACTC1):c.-36C>G rs886051091
NM_005159.4(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.4(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.4(ACTC1):c.809-16_809-13delTGTG rs59431308
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_007078.2(LDB3):c.-114T>C rs2803558
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_032978.6(DTNA):c.1207C>T (p.His403Tyr) rs139872140
NM_032978.6(DTNA):c.243A>G (p.Leu81=) rs146923532
NM_032978.6(DTNA):c.476G>A (p.Ser159Asn) rs147115867
NM_032978.6(DTNA):c.604-14G>T rs397517447
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.32704+8delA rs727504922
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423

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