ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1KK

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1KK: Y axis collection method of the submission for Dilated cardiomyopathy 1KK:
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
94 78 0 24 21 0 6 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
Dilated cardiomyopathy 1KK pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 5 2 1
likely pathogenic 2 0 2 2 1
uncertain significance 3 2 0 12 1
likely benign 1 1 11 0 15
benign 1 1 3 21 0

Condition to condition summary #

Total conditions: 8
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 35 0 22 12 0 3 33
Cardiovascular phenotype 0 30 0 14 10 0 3 25
Dilated cardiomyopathy 1KK 177 21 0 15 4 0 4 19
not provided 0 43 0 3 9 0 3 12
Primary dilated cardiomyopathy 0 1 0 1 2 0 3 4
Familial hypertrophic cardiomyopathy 22 0 0 0 2 0 0 2 2
Familial dilated cardiomyopathy 0 0 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_001256267.1(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352
NM_001256268.1(MYPN):c.578-14T>A rs201156035
NM_032578.3(MYPN):c.1104C>T (p.Gly368=) rs144764983
NM_032578.3(MYPN):c.1130G>A (p.Arg377Gln) rs147596628
NM_032578.3(MYPN):c.1134C>T (p.Ile378=) rs145701607
NM_032578.3(MYPN):c.1236C>A (p.Thr412=) rs151220474
NM_032578.3(MYPN):c.1245+20A>G rs111634581
NM_032578.3(MYPN):c.1246-19G>A rs75739924
NM_032578.3(MYPN):c.1293C>A (p.Ile431=) rs147184158
NM_032578.3(MYPN):c.1563C>T (p.Tyr521=) rs77249928
NM_032578.3(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_032578.3(MYPN):c.1893G>A (p.Arg631=) rs145440469
NM_032578.3(MYPN):c.1900G>A (p.Gly634Arg) rs148407539
NM_032578.3(MYPN):c.1935C>T (p.Pro645=) rs71535754
NM_032578.3(MYPN):c.1952C>A (p.Pro651Gln) rs548318517
NM_032578.3(MYPN):c.2028A>G (p.Gln676=) rs876657537
NM_032578.3(MYPN):c.2228C>T (p.Pro743Leu) rs138583865
NM_032578.3(MYPN):c.2236A>G (p.Thr746Ala) rs147287437
NM_032578.3(MYPN):c.2260A>C (p.Ile754Leu) rs201245117
NM_032578.3(MYPN):c.2409C>A (p.Ser803Arg) rs3814182
NM_032578.3(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.3(MYPN):c.2880T>G (p.Ser960=) rs146028308
NM_032578.3(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032578.3(MYPN):c.2925+9G>C rs12241644
NM_032578.3(MYPN):c.3075+20C>T rs377273417
NM_032578.3(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.3(MYPN):c.3263G>A (p.Arg1088His) rs71584501
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.3416G>A (p.Arg1139His) rs531222847
NM_032578.3(MYPN):c.3417C>G (p.Arg1139=) rs144488384
NM_032578.3(MYPN):c.3417C>T (p.Arg1139=) rs144488384
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032578.3(MYPN):c.3493+6G>A rs750903219
NM_032578.3(MYPN):c.3583G>A (p.Val1195Met) rs71534280
NM_032578.3(MYPN):c.3768G>A (p.Ser1256=) rs533708375
NM_032578.3(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164
NM_032578.3(MYPN):c.392G>T (p.Ser131Ile) rs199853307
NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_032578.3(MYPN):c.465C>G (p.Ala155=) rs142867001
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032578.3(MYPN):c.65C>G (p.Ala22Gly) rs145142157
NM_032578.3(MYPN):c.660G>A (p.Arg220=) rs372218308
NM_032578.3(MYPN):c.734C>G (p.Ala245Gly) rs143574079
NM_032578.3(MYPN):c.952G>A (p.Val318Ile) rs112518450

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