ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant

Coded as:
Minimum review status of the submission for Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant: Y axis collection method of the submission for Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant:
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
533 91 0 40 33 0 2 70

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
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
uncertain significance 1 0 0 6 0
likely benign 0 0 18 0 3
benign 0 0 9 35 0

Condition to condition summary #

Total conditions: 4
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 49 0 37 7 0 1 45
not provided 0 40 0 3 27 0 0 30
Cardiomyopathy, familial hypertrophic, 26 0 2 0 1 0 0 0 1
Cardiomyopathy, restrictive 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 70
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HGVS dbSNP
NM_001458.4(FLNC):c.1374C>T (p.Pro458=) rs115140972
NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.4(FLNC):c.1519G>A (p.Gly507Arg) rs189525930
NM_001458.4(FLNC):c.1568T>C (p.Val523Ala) rs182845462
NM_001458.4(FLNC):c.1600G>A (p.Glu534Lys) rs201905890
NM_001458.4(FLNC):c.1614C>T (p.Tyr538=) rs76046880
NM_001458.4(FLNC):c.1657G>A (p.Gly553Ser) rs201572079
NM_001458.4(FLNC):c.1698C>T (p.Ser566=) rs112194548
NM_001458.4(FLNC):c.2008-7C>T rs767576240
NM_001458.4(FLNC):c.2199C>G (p.Thr733=) rs200655185
NM_001458.4(FLNC):c.2382G>A (p.Ala794=) rs536456072
NM_001458.4(FLNC):c.2390-8C>G rs146063718
NM_001458.4(FLNC):c.2390-9T>C rs368068407
NM_001458.4(FLNC):c.2501C>T (p.Thr834Met) rs75133741
NM_001458.4(FLNC):c.2889G>A (p.Pro963=) rs191892345
NM_001458.4(FLNC):c.294G>A (p.Glu98=) rs201839252
NM_001458.4(FLNC):c.3000T>C (p.Asp1000=) rs184454068
NM_001458.4(FLNC):c.3006G>A (p.Arg1002=) rs61737781
NM_001458.4(FLNC):c.3180delT (p.Asp1061Ilefs) rs1064795229
NM_001458.4(FLNC):c.3243G>A (p.Ala1081=) rs534482249
NM_001458.4(FLNC):c.3489G>C (p.Pro1163=) rs369853278
NM_001458.4(FLNC):c.352+10G>A rs79489893
NM_001458.4(FLNC):c.3553G>A (p.Glu1185Lys) rs912926530
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.4(FLNC):c.3621C>T (p.Asn1207=) rs117864464
NM_001458.4(FLNC):c.3693C>T (p.Gly1231=) rs765922145
NM_001458.4(FLNC):c.3757G>A (p.Val1253Ile) rs117366477
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) rs34180031
NM_001458.4(FLNC):c.3861C>T (p.His1287=) rs375986462
NM_001458.4(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244
NM_001458.4(FLNC):c.3966C>T (p.Gly1322=) rs200237564
NM_001458.4(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783
NM_001458.4(FLNC):c.4161C>T (p.Ile1387=) rs200288149
NM_001458.4(FLNC):c.4296G>A (p.Pro1432=) rs370827536
NM_001458.4(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001458.4(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205
NM_001458.4(FLNC):c.4581-5T>A rs368660628
NM_001458.4(FLNC):c.4947C>T (p.Gly1649=) rs201069454
NM_001458.4(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001458.4(FLNC):c.5070C>T (p.Leu1690=) rs202027738
NM_001458.4(FLNC):c.5262C>T (p.Tyr1754=) rs369165766
NM_001458.4(FLNC):c.5298+6G>A rs373553314
NM_001458.4(FLNC):c.5311C>G (p.Pro1771Ala) rs200001272
NM_001458.4(FLNC):c.5374G>A (p.Ala1792Thr) rs201348102
NM_001458.4(FLNC):c.5418G>A (p.Ser1806=) rs376078394
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717
NM_001458.4(FLNC):c.5592C>T (p.Ala1864=) rs117517372
NM_001458.4(FLNC):c.561C>T (p.Asp187=) rs149474376
NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val) rs184018403
NM_001458.4(FLNC):c.597C>T (p.Ala199=) rs143942649
NM_001458.4(FLNC):c.600C>T (p.Pro200=) rs202105410
NM_001458.4(FLNC):c.6309C>T (p.Thr2103=) rs376992044
NM_001458.4(FLNC):c.6441C>T (p.Ile2147=) rs762017885
NM_001458.4(FLNC):c.6485-8C>T rs369347947
NM_001458.4(FLNC):c.6714C>T (p.Thr2238=) rs10268251
NM_001458.4(FLNC):c.6771A>G (p.Pro2257=) rs34422412
NM_001458.4(FLNC):c.6808G>A (p.Glu2270Lys) rs202223616
NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu)
NM_001458.4(FLNC):c.6991G>A (p.Val2331Met) rs191288058
NM_001458.4(FLNC):c.6998-5C>T rs139030003
NM_001458.4(FLNC):c.7091G>A (p.Arg2364His) rs201672146
NM_001458.4(FLNC):c.7291G>A (p.Val2431Met) rs572952653
NM_001458.4(FLNC):c.7533C>T (p.Tyr2511=) rs376806697
NM_001458.4(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558
NM_001458.4(FLNC):c.7780+10A>G rs201149834
NM_001458.4(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548
NM_001458.4(FLNC):c.7990+9C>T rs566679569
NM_001458.4(FLNC):c.8003T>C (p.Met2668Thr) rs200502811
NM_001458.4(FLNC):c.8118C>T (p.Leu2706=) rs28379666
NM_001458.4(FLNC):c.8121T>C (p.Ile2707=) rs28437296

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