ClinVar Miner

Variants with conflicting interpretations studied for Dilated Cardiomyopathy, Recessive

Coded as:
Minimum review status of the submission for Dilated Cardiomyopathy, Recessive: Y axis collection method of the submission for Dilated Cardiomyopathy, Recessive:
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
75 59 1 22 11 1 0 32

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
Dilated Cardiomyopathy, Recessive uncertain significance likely benign benign risk factor
uncertain significance 1 6 7 0
likely benign 1 0 22 1

Condition to condition summary #

Total conditions: 13
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 1 0 20 8 0 0 28
not provided 0 4 0 6 6 0 0 12
Cardiovascular phenotype 0 2 0 4 3 0 0 7
Primary ciliary dyskinesia 0 7 0 6 1 0 0 7
Cardiomyopathy 0 1 1 2 2 0 0 5
Ciliary dyskinesia, primary, 2 0 0 0 5 0 0 0 5
Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 0 0 0 2 0 0 0 2
Amyloidogenic transthyretin amyloidosis; Cardiomyopathy 0 0 0 1 0 0 0 1
Cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 7 0 0 0 0 0 1 0 1
Fukuyama congenital muscular dystrophy 0 59 0 1 0 0 0 1
Walker-Warburg congenital muscular dystrophy 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000363.5(TNNI3):c.-35C>A rs3729707
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.150+13G>A rs73617692
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.25-8T>A rs3729836
NM_000363.5(TNNI3):c.283-9C>T rs759922995
NM_000363.5(TNNI3):c.372+7C>T rs367809676
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725
NM_003283.6(TNNT1):c.-20A>G rs9636153
NM_003283.6(TNNT1):c.33-8G>A rs76630067
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625

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