ClinVar Miner

Variants with conflicting interpretations studied for Primary dilated cardiomyopathy

Coded as:
Minimum review status of the submission for Primary dilated cardiomyopathy: Collection method of the submission for Primary dilated cardiomyopathy:
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
2693 40 0 13 9 0 11 33

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
Primary dilated cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 2 0 0
likely pathogenic 12 0 9 0 0
uncertain significance 2 9 0 9 0
likely benign 0 0 9 0 1
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 1
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
Primary dilated cardiomyopathy 2696 37 0 13 9 0 11 33

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459

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