ClinVar Miner

Variants with conflicting interpretations studied for Dilated Cardiomyopathy, Recessive

Coded as:
Minimum review status of the submission for Dilated Cardiomyopathy, Recessive: Collection method of the submission for Dilated Cardiomyopathy, Recessive:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
659 50 0 23 7 0 0 30

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, Recessive uncertain significance likely benign benign
uncertain significance 0 3 4
likely benign 1 0 20
benign 0 3 0

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not specified 0 37 0 19 4 0 0 23
not provided 0 11 0 12 3 0 0 15
PLEKHM2-related condition 0 5 0 3 0 0 0 3
Cardiovascular phenotype 0 0 0 2 0 0 0 2
DNAAF3-related condition 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_015164.4(PLEKHM2):c.1797C>T (p.His599=) rs150750784 0.00309
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_000363.5(TNNI3):c.-85A>C rs186540595 0.00142
NM_015164.4(PLEKHM2):c.61-7C>T rs76932674 0.00122
NM_000363.5(TNNI3):c.-103C>T rs557391836 0.00102
NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=) rs116565708 0.00093
NM_015164.4(PLEKHM2):c.2518G>A (p.Ala840Thr) rs199578594 0.00018
NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser) rs376758113 0.00006
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872

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