ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1JJ

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1JJ: 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 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
961 150 0 26 6 0 2 34

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 2 0 0
uncertain significance 2 0 6 0
likely benign 0 6 0 26
benign 0 0 26 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
Dilated cardiomyopathy 1JJ 961 150 0 26 6 0 2 34

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) rs139241892 0.00050
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001105206.3(LAMA4):c.1551+8G>A rs782128294 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001105206.3(LAMA4):c.967-16A>G rs80110492 0.00004
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu) rs387907365 0.00001
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822

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