ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1DD

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1DD: Y axis collection method of the submission for Dilated cardiomyopathy 1DD:
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
136 63 1 21 29 0 9 52

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 1DD pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 6 1 22 4
likely benign 0 0 7 0 11
benign 0 0 3 10 0

Condition to condition summary #

Total conditions: 14
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 35 1 12 14 0 1 27
not provided 0 44 1 10 12 0 5 25
Cardiomyopathy 0 19 0 7 5 0 1 12
Dilated Cardiomyopathy, Dominant 0 7 0 8 4 0 0 12
Cardiovascular phenotype 0 22 0 7 5 0 0 11
Primary dilated cardiomyopathy 0 5 0 5 2 0 3 9
Dilated cardiomyopathy 1DD 228 15 0 5 3 0 1 8
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 0 1 0 0 0 1 2
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 0 1
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 1 1 0 0 1
Familial dilated cardiomyopathy 0 2 0 1 0 0 0 1
Heart failure 0 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Cardiac arrest 0 0 0 1 1 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000364.4(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_000364.4(TNNT2):c.522C>T (p.Asn174=) rs483352833
NM_000364.4(TNNT2):c.601-373G>A rs483352835
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) rs794729143
NM_001134363.3(RBM20):c.125_127AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1275+13A>G rs373230569
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.129_131GCC[4] (p.Pro48del) rs756342135
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387
NM_001134363.3(RBM20):c.1429+10G>T rs778742738
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596
NM_001134363.3(RBM20):c.1801-11G>C rs12572941
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) rs550942448
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.3452-9= rs7070640
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.3(RBM20):c.3574-6C>G rs762069628
NM_001134363.3(RBM20):c.3574-7T>G rs397516616
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln) rs794729139
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126

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