ClinVar Miner

Variants with conflicting interpretations studied for Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

Coded as:
Minimum review status of the submission for Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome: Y axis collection method of the submission for Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome:
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
0 57 0 26 14 1 0 39

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 with Wolff-Parkinson-White Syndrome uncertain significance likely benign benign risk factor
uncertain significance 0 11 5 0
likely benign 2 0 26 1

Condition to condition summary #

Total conditions: 10
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 25 9 0 0 34
Cardiomyopathy 0 4 0 7 6 0 0 13
Cardiovascular phenotype 0 0 0 7 4 0 0 11
Glycogen storage disease of heart, lethal congenital 0 56 0 4 5 0 0 9
Primary ciliary dyskinesia 0 7 0 7 1 0 0 8
not provided 0 4 0 5 2 0 0 7
Ciliary dyskinesia, primary, 2 0 0 0 5 0 0 0 5
Hypertrophic cardiomyopathy 0 29 0 2 1 0 0 3
Familial hypertrophic cardiomyopathy 7 0 0 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 39
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.372+7C>T rs367809676
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_016203.3(PRKAG2):c.-520C>T rs73160072
NM_016203.4(PRKAG2):c.*3G>A rs113234987
NM_016203.4(PRKAG2):c.-16A>G rs200468798
NM_016203.4(PRKAG2):c.-26C>T rs66628686
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.4(PRKAG2):c.114+12C>T rs77902041
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_178837.4(DNAAF3):c.1016A>G (p.Glu339Gly) rs2365725
NM_178837.4(DNAAF3):c.1142T>C (p.Leu381Pro) rs890871
NM_178837.4(DNAAF3):c.1197G>A (p.Pro399=) rs891187
NM_178837.4(DNAAF3):c.1305-14C>T rs60176657
NM_178837.4(DNAAF3):c.1380-8A>G rs28377509
NM_178837.4(DNAAF3):c.1546G>A (p.Val516Met) rs114601492
NM_178837.4(DNAAF3):c.468A>G (p.Arg156=) rs3848618
NM_178837.4(DNAAF3):c.651A>G (p.Val217=) rs56726774
NM_178837.4(DNAAF3):c.670G>A (p.Gly224Ser) rs58824375
NM_178837.4(DNAAF3):c.672C>T (p.Gly224=) rs559008223
NM_178837.4(DNAAF3):c.807T>C (p.Ala269=) rs7260320
NM_178837.4(DNAAF3):c.931-14C>T rs7260371

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