ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 3B

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 3B: Y axis collection method of the submission for Dilated cardiomyopathy 3B:
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
55 40 0 32 24 0 0 53

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 3B uncertain significance likely benign benign
uncertain significance 0 17 11
likely benign 3 0 32

Condition to condition summary #

Total conditions: 9
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 2 0 31 17 0 0 48
Duchenne muscular dystrophy 0 19 0 21 19 0 0 38
Cardiovascular phenotype 0 4 0 21 8 0 0 29
not provided 0 32 0 18 2 0 0 20
3-Methylglutaconic aciduria type 2 0 7 0 3 1 0 0 4
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 4 0 0 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 0 0 1 0 0 1
Becker muscular dystrophy 0 17 0 0 1 0 0 1
Cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_004006.2(DMD):c.-114dupT rs72470542
NM_004006.2(DMD):c.-8T>A rs113726961
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.10789C>T (p.Leu3597=) rs1800281
NM_004006.2(DMD):c.1225A>T (p.Thr409Ser) rs34155804
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1809G>A (p.Leu603=) rs192176661
NM_004006.2(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.2(DMD):c.2168+13T>C rs228373
NM_004006.2(DMD):c.2245A>G (p.Ile749Val) rs771803281
NM_004006.2(DMD):c.2623-11C>G rs1028360
NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) rs3827462
NM_004006.2(DMD):c.3603+8A>G rs193249735
NM_004006.2(DMD):c.3666T>C (p.Asn1222=) rs373281760
NM_004006.2(DMD):c.3705C>T (p.Ala1235=) rs143628111
NM_004006.2(DMD):c.3734C>T (p.Thr1245Ile) rs1800269
NM_004006.2(DMD):c.3921+12A>G rs760373690
NM_004006.2(DMD):c.3951G>A (p.Glu1317=) rs199643655
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004006.2(DMD):c.4234-13A>G rs41303181
NM_004006.2(DMD):c.4275A>G (p.Glu1425=) rs72468647
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.2(DMD):c.4878G>T (p.Val1626=) rs61733574
NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) rs16990264
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.530+7A>T rs72470523
NM_004006.2(DMD):c.5586+9G>A rs200025478
NM_004006.2(DMD):c.5620G>A (p.Glu1874Lys) rs142441725
NM_004006.2(DMD):c.5724T>C (p.Asp1908=) rs143159113
NM_004006.2(DMD):c.5933G>T (p.Arg1978Leu) rs148135406
NM_004006.2(DMD):c.6322C>T (p.Arg2108Cys) rs16990169
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.6471T>A (p.Thr2157=) rs377080659
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.2(DMD):c.7200+9G>A rs748786108
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.8027+11C>T rs2270672
NM_004006.2(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.2(DMD):c.837G>A (p.Thr279=) rs1800265
NM_004006.2(DMD):c.8571T>C (p.Thr2857=) rs72466570
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004006.2(DMD):c.94-9dupT rs3834997
NM_004006.2(DMD):c.9486G>A (p.Glu3162=) rs370724251
NM_004006.2(DMD):c.9564-5A>G rs201390145
NM_004006.2(DMD):c.9649+15T>C rs2293668
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872

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