ClinVar Miner

Variants with conflicting interpretations studied for Familial hypertrophic cardiomyopathy 1

Coded as:
Minimum review status of the submission for Familial hypertrophic cardiomyopathy 1: Y axis collection method of the submission for Familial hypertrophic cardiomyopathy 1:
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
68 43 0 60 22 0 42 104

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
Familial hypertrophic cardiomyopathy 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 29 10 0 0
likely pathogenic 24 0 20 2 0
uncertain significance 6 8 0 6 2
likely benign 1 1 8 0 5
benign 1 0 8 14 0

Condition to condition summary #

Total conditions: 31
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
Hypertrophic cardiomyopathy 0 33 0 33 7 0 11 51
not provided 0 40 0 33 7 0 13 50
not specified 0 34 0 14 12 0 20 43
Primary familial hypertrophic cardiomyopathy 0 25 0 22 3 0 7 32
Cardiovascular phenotype 0 21 0 18 3 0 7 28
Familial hypertrophic cardiomyopathy 1 184 16 0 12 1 0 2 15
Cardiomyopathy 0 19 0 8 2 0 5 14
Dilated Cardiomyopathy, Dominant 0 4 0 2 1 0 2 5
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 3 0 4 0 0 1 5
Left ventricular noncompaction cardiomyopathy 0 4 0 1 2 0 2 5
Myopathy, distal, 1 0 6 0 1 1 0 1 3
Myosin storage myopathy 0 6 0 1 1 0 1 3
Scapuloperoneal myopathy 0 2 0 1 1 0 1 3
Cardiomyopathy, hypertrophic, midventricular, digenic 0 0 0 0 0 0 2 2
Dilated cardiomyopathy 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 2 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 4 0 5 0 0 0 0 2 2
Wolff-Parkinson-White pattern 0 1 0 1 0 0 1 2
Death in infancy 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 10 0 1 0 0 1 0 1 1
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 1 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 8 0 0 0 1 0 0 0 1
Familial restrictive cardiomyopathy 1 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 0 0 0 0 1 1
Left ventricular noncompaction 5 0 1 0 1 0 0 0 1
Long QT syndrome 0 0 0 0 0 0 1 1
MYL2-Related Disorders 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 104
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) rs730880649
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000257.2(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.2(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.2(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.2(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.2(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.2(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.3(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.3(MYH7):c.1046T>C (p.Met349Thr) rs121913640
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.3(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.3(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.3(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.3(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.3(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.3(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.767G>A (p.Gly256Glu) rs121913633
NM_000257.3(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) rs367785431
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) rs397516484
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_033118.3(MYLK2):c.102A>G (p.Lys34=) rs28763880
NM_033118.3(MYLK2):c.1068C>T (p.Val356=) rs17340492
NM_033118.3(MYLK2):c.1104C>T (p.Phe368=) rs6089088
NM_033118.3(MYLK2):c.1295+4C>A rs113936360
NM_033118.3(MYLK2):c.1356G>A (p.Glu452=) rs147329431
NM_033118.3(MYLK2):c.1584G>A (p.Arg528=) rs55807353
NM_033118.3(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033118.3(MYLK2):c.260C>T (p.Ala87Val) rs121908107
NM_033118.3(MYLK2):c.266G>A (p.Gly89Asp) rs115398036
NM_033118.3(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_033118.3(MYLK2):c.331C>T (p.Pro111Ser) rs750548324
NM_033118.3(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_033118.3(MYLK2):c.4G>A (p.Ala2Thr) rs117502839
NM_033118.3(MYLK2):c.508G>A (p.Glu170Lys) rs145656924
NM_033118.3(MYLK2):c.558G>A (p.Thr186=) rs140695242
NM_033118.3(MYLK2):c.726G>A (p.Gln242=) rs145772898
NM_033118.3(MYLK2):c.786A>G (p.Pro262=) rs727504437
NM_033118.3(MYLK2):c.791C>T (p.Pro264Leu) rs142620954
NM_033118.3(MYLK2):c.972+14G>A rs193922713
NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) rs121909280

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