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
64 67 0 33 20 0 0 51

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 uncertain significance likely benign benign
uncertain significance 0 8 1
likely benign 10 0 18
benign 3 26 0

Condition to condition summary #

Total conditions: 6
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 46 0 29 12 0 0 40
Cardiovascular phenotype 0 20 0 8 5 0 0 13
Cardiomyopathy 0 10 0 8 4 0 0 12
Dilated cardiomyopathy 1JJ 145 25 0 11 1 0 0 12
not provided 0 20 0 2 10 0 0 12
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 51
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HGVS dbSNP
NM_001105206.2(LAMA4):c.196-12T>C rs78871662
NM_001105206.2(LAMA4):c.1962G>A (p.Ala654=) rs140246538
NM_001105206.2(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257
NM_001105206.2(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.2(LAMA4):c.5207-14G>C rs112265545
NM_001105209.2(LAMA4):c.339T>C (p.Leu113=) rs147118520
NM_002290.4(LAMA4):c.1014G>A (p.Thr338=) rs147069572
NM_002290.4(LAMA4):c.1137G>A (p.Glu379=) rs147894075
NM_002290.4(LAMA4):c.1169-8C>G rs73538515
NM_002290.4(LAMA4):c.1256T>C (p.Met419Thr) rs200112094
NM_002290.4(LAMA4):c.1305C>T (p.Leu435=) rs3752580
NM_002290.4(LAMA4):c.1454T>A (p.Leu485His) rs3752579
NM_002290.4(LAMA4):c.1593G>A (p.Ala531=) rs143587921
NM_002290.4(LAMA4):c.1648-7delT rs531072297
NM_002290.4(LAMA4):c.1800G>A (p.Lys600=) rs374481199
NM_002290.4(LAMA4):c.1938T>C (p.Asp646=) rs143269044
NM_002290.4(LAMA4):c.1939-3T>C rs373682270
NM_002290.4(LAMA4):c.196-9C>T rs144850734
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.2229G>A (p.Gln743=) rs112305543
NM_002290.4(LAMA4):c.2377C>T (p.Arg793Cys) rs202184174
NM_002290.4(LAMA4):c.2382G>A (p.Thr794=) rs142559688
NM_002290.4(LAMA4):c.2634C>T (p.Leu878=) rs35772073
NM_002290.4(LAMA4):c.2789A>G (p.Glu930Gly) rs35605307
NM_002290.4(LAMA4):c.297+8G>A rs200595773
NM_002290.4(LAMA4):c.3033G>T (p.Leu1011Phe) rs183262122
NM_002290.4(LAMA4):c.3034T>C (p.Tyr1012His) rs73532636
NM_002290.4(LAMA4):c.3144C>T (p.Ser1048=) rs782303510
NM_002290.4(LAMA4):c.3218G>A (p.Arg1073Gln) rs41289902
NM_002290.4(LAMA4):c.343G>A (p.Asp115Asn) rs781919095
NM_002290.4(LAMA4):c.3813G>A (p.Gly1271=) rs141988342
NM_002290.4(LAMA4):c.3922G>A (p.Val1308Ile) rs70940811
NM_002290.4(LAMA4):c.4044C>T (p.Phe1348=) rs34753919
NM_002290.4(LAMA4):c.4152T>C (p.Tyr1384=) rs35042032
NM_002290.4(LAMA4):c.456T>A (p.Ala152=) rs149106800
NM_002290.4(LAMA4):c.4644+8G>T rs184220860
NM_002290.4(LAMA4):c.4657C>A (p.Arg1553=) rs150069819
NM_002290.4(LAMA4):c.4801-3C>T rs191447048
NM_002290.4(LAMA4):c.4831C>T (p.Leu1611Phe) rs397516733
NM_002290.4(LAMA4):c.4995T>A (p.Ile1665=) rs148517180
NM_002290.4(LAMA4):c.514G>A (p.Gly172Ser) rs147695488
NM_002290.4(LAMA4):c.5319A>G (p.Thr1773=) rs139241892
NM_002290.4(LAMA4):c.5429T>C (p.Ile1810Thr) rs144482486
NM_002290.4(LAMA4):c.641G>A (p.Arg214His) rs139146419
NM_002290.4(LAMA4):c.668G>A (p.Arg223His) rs200017155
NM_002290.4(LAMA4):c.842C>G (p.Ala281Gly) rs150084275
NM_002290.4(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_002290.4(LAMA4):c.867C>T (p.Ser289=) rs17073495
NM_002290.4(LAMA4):c.903T>C (p.His301=) rs143580603
NM_002290.4(LAMA4):c.976G>A (p.Ala326Thr) rs576711704
NM_002290.4(LAMA4):c.999C>T (p.Asn333=) rs147822567

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