ClinVar Miner

Variants with conflicting interpretations studied for Myopathy, distal, 1

Coded as:
Minimum review status of the submission for Myopathy, distal, 1: Y axis collection method of the submission for Myopathy, distal, 1:
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
6 59 1 37 23 0 4 58

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
Myopathy, distal, 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 4 2 1 0
uncertain significance 0 1 0 11 3
likely benign 0 1 12 0 30
benign 0 0 0 4 0

Condition to condition summary #

Total conditions: 18
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 21 0 28 13 0 1 41
Hypertrophic cardiomyopathy 0 72 0 20 8 0 3 31
Cardiomyopathy 0 20 0 21 6 0 1 28
Cardiovascular phenotype 0 22 0 10 7 0 0 17
not provided 0 11 0 6 8 0 1 15
Dilated Cardiomyopathy, Dominant 0 90 0 3 0 0 0 3
Familial hypertrophic cardiomyopathy 1 0 6 0 1 1 0 1 3
Primary familial hypertrophic cardiomyopathy 0 1 0 1 3 0 0 3
Primary dilated cardiomyopathy 0 0 0 2 0 0 0 2
Atrial septal defect 0 1 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 92 0 1 0 0 0 1
Myopathy, distal, 1 105 17 0 1 0 0 0 1
Myosin storage myopathy 0 94 0 1 0 0 0 1
Scapuloperoneal myopathy 0 91 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_000257.2(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.3(MYH7):c.*113G>A rs17794387
NM_000257.3(MYH7):c.*20G>A rs45548631
NM_000257.3(MYH7):c.1000-7C>T rs200129563
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000257.3(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.3(MYH7):c.1749C>T (p.Ala583=) rs758665829
NM_000257.3(MYH7):c.1983C>T (p.Asn661=) rs146474860
NM_000257.3(MYH7):c.2028T>C (p.Asn676=) rs145564868
NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000257.3(MYH7):c.2349C>T (p.Arg783=) rs139882431
NM_000257.3(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.3(MYH7):c.2692C>T (p.Leu898=) rs727504407
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.3564T>C (p.Thr1188=) rs45587932
NM_000257.3(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.3(MYH7):c.3972+15C>T rs3729820
NM_000257.3(MYH7):c.4158C>T (p.Leu1386=) rs886050418
NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.3(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.3(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.3(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.3(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.3(MYH7):c.5186_5188delAGA (p.Lys1729del) rs367543052
NM_000257.3(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.3(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.3(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_002471.3(MYH6):c.-64G>C rs79618123

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