ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1JJ

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1JJ: Y axis collection method of the submission for Dilated cardiomyopathy 1JJ:
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
72 62 0 21 15 0 1 35

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 1JJ pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 9 1
likely benign 0 5 0 19
benign 0 1 10 0

Condition to condition summary #

Total conditions: 7
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 34 0 18 8 0 0 26
not provided 0 33 0 13 8 0 0 21
Cardiomyopathy 0 9 0 6 3 0 0 9
Dilated cardiomyopathy 1JJ 138 22 0 8 0 0 1 9
Cardiovascular phenotype 0 18 0 2 3 0 0 5
Dilated cardiomyopathy 0 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199
NM_001105206.3(LAMA4):c.195+144T>C rs147118520
NM_001105206.3(LAMA4):c.196-12T>C rs78871662
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) rs200017155
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603

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