ClinVar Miner

Variants with conflicting interpretations studied for Familial restrictive cardiomyopathy

Coded as:
Minimum review status of the submission for Familial restrictive cardiomyopathy: Y axis collection method of the submission for Familial restrictive 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
1 108 0 35 11 1 0 45

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 restrictive cardiomyopathy pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 10 3 0
likely benign 0 2 0 33 1

Condition to condition summary #

Total conditions: 17
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 3 0 32 8 0 0 39
Cardiomyopathy 0 1 0 8 2 0 0 10
Cardiovascular phenotype 0 2 0 8 0 0 0 8
Ciliary dyskinesia 0 7 0 7 1 0 0 8
Ciliary dyskinesia, primary, 2 0 0 0 5 0 0 0 5
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 3 0 3 2 0 0 5
Hypertrophic cardiomyopathy 0 129 0 3 2 0 0 5
not provided 0 3 0 4 1 0 0 5
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 1 2 0 0 3
Primary familial hypertrophic cardiomyopathy 0 0 0 2 0 0 0 2
Atrial septal defect 0 82 0 0 1 0 0 1
Dilated Cardiomyopathy, Dominant 0 101 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 2 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 7 0 0 0 0 0 1 0 1
Familial restrictive cardiomyopathy 151 2 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 101 0 0 1 0 0 1
Nemaline myopathy 3 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000363.4(TNNI3):c.-35C>A rs3729707
NM_000363.4(TNNI3):c.12-7delC rs370714315
NM_000363.4(TNNI3):c.150+13G>A rs73617692
NM_000363.4(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.4(TNNI3):c.25-8T>A rs3729836
NM_000363.4(TNNI3):c.372+7C>T rs367809676
NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
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.280C>T (p.Arg94Cys) rs727503513
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_001100.3(ACTA1):c.130-10G>C rs41271481
NM_001100.3(ACTA1):c.130-5T>C rs11803533
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.809-12dupC rs201427429
NM_001100.3(ACTA1):c.809-14G>C rs6673359
NM_001256714.1(DNAAF3):c.1079A>G (p.Glu360Gly) rs2365725
NM_001256714.1(DNAAF3):c.1205T>C (p.Leu402Pro) rs890871
NM_001256714.1(DNAAF3):c.1257G>A (p.Pro419=) rs891187
NM_001256714.1(DNAAF3):c.1365-14C>T rs60176657
NM_001256714.1(DNAAF3):c.1440-8A>G rs28377509
NM_001256714.1(DNAAF3):c.1606G>A (p.Val536Met) rs114601492
NM_001256714.1(DNAAF3):c.531A>G (p.Arg177=) rs3848618
NM_001256714.1(DNAAF3):c.714A>G (p.Val238=) rs56726774
NM_001256714.1(DNAAF3):c.733G>A (p.Gly245Ser) rs58824375
NM_001256714.1(DNAAF3):c.735C>T (p.Gly245=) rs559008223
NM_001256714.1(DNAAF3):c.870T>C (p.Ala290=) rs7260320
NM_001256714.1(DNAAF3):c.994-14C>T rs7260371
NM_003283.5(TNNT1):c.-20A>G rs9636153
NM_003283.5(TNNT1):c.33-8G>A rs76630067
NM_003283.5(TNNT1):c.35A>G (p.Glu12Gly) rs112562759
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

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