ClinVar Miner

Variants with conflicting interpretations studied for Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3

Coded as:
Minimum review status of the submission for Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3: Y axis collection method of the submission for Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3:
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
56 37 1 22 11 0 21 46

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 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 2 0 0
likely pathogenic 2 0 3 0 0
uncertain significance 5 14 1 3 1
likely benign 1 0 5 0 4
benign 0 0 3 5 0

Condition to condition summary #

Total conditions: 16
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 provided 0 26 0 8 0 0 11 19
not specified 0 29 0 6 6 0 3 14
Hypertrophic cardiomyopathy 0 13 0 5 2 0 2 9
Cardiovascular phenotype 0 15 0 5 0 0 3 8
Dilated Cardiomyopathy, Dominant 0 3 0 3 2 0 0 5
Familial restrictive cardiomyopathy 0 3 0 3 2 0 0 5
Left ventricular noncompaction cardiomyopathy 0 3 0 3 2 0 0 5
Cardiomyopathy 0 17 0 2 2 0 0 4
Primary dilated cardiomyopathy 0 5 0 2 0 0 2 4
Primary familial hypertrophic cardiomyopathy 0 6 0 0 0 0 4 4
Dilated cardiomyopathy 1DD 0 0 1 0 1 0 1 3
Familial hypertrophic cardiomyopathy 2 0 3 0 2 0 0 1 3
Familial hypertrophic cardiomyopathy 1 0 2 0 1 0 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Left ventricular noncompaction 6 0 7 0 0 1 0 0 1
Sudden cardiac death 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.4(TNNT2):c.114G>A (p.Ala38=) rs200283086
NM_000364.4(TNNT2):c.200-11A>G rs368658464
NM_000364.4(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_000364.4(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_000364.4(TNNT2):c.281dup (p.Val95fs) rs780087395
NM_000364.4(TNNT2):c.287A>C (p.Asp96Ala) rs397516455
NM_000364.4(TNNT2):c.294+7G>A rs45490292
NM_000364.4(TNNT2):c.305G>A (p.Arg102Gln) rs121964856
NM_000364.4(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_000364.4(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_000364.4(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_000364.4(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_000364.4(TNNT2):c.412-6_412-4del rs397516462
NM_000364.4(TNNT2):c.418C>T (p.Arg140Cys) rs397516463
NM_000364.4(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_000364.4(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_000364.4(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_000364.4(TNNT2):c.452G>A (p.Arg151Gln) rs730881101
NM_000364.4(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_000364.4(TNNT2):c.474G>C (p.Arg158=) rs35914325
NM_000364.4(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_000364.4(TNNT2):c.52+7G>A rs374443596
NM_000364.4(TNNT2):c.522C>T (p.Asn174=) rs483352833
NM_000364.4(TNNT2):c.53-11_53-7del rs45533739
NM_000364.4(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_000364.4(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_000364.4(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_000364.4(TNNT2):c.601-10C>T rs375547142
NM_000364.4(TNNT2):c.601-373G>A rs483352835
NM_000364.4(TNNT2):c.634C>T (p.Arg212Trp) rs45586240
NM_000364.4(TNNT2):c.635G>A (p.Arg212Gln) rs121964860
NM_000364.4(TNNT2):c.63T>G (p.Val21=) rs397516477
NM_000364.4(TNNT2):c.683T>C (p.Ile228Thr) rs45520032
NM_000364.4(TNNT2):c.711-4G>T rs201753429
NM_000364.4(TNNT2):c.711-6G>A rs113471285
NM_000364.4(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000364.4(TNNT2):c.755C>T (p.Ala252Val) rs369181536
NM_000364.4(TNNT2):c.766G>A (p.Asp256Asn) rs141805127
NM_000364.4(TNNT2):c.794A>T (p.Lys265Ile) rs397516482
NM_000364.4(TNNT2):c.842+5G>A rs193922620
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.4(TNNT2):c.854G>C (p.Arg285Pro) rs397516484
NM_000364.4(TNNT2):c.878G>A (p.Arg293His) rs141121678
NM_000364.4(TNNT2):c.881G>A (p.Trp294Ter) rs727504247
NM_000364.4(TNNT2):c.882G>A (p.Trp294Ter) rs730881116

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