ClinVar Miner

Variants with conflicting interpretations studied for Jervell and Lange-Nielsen syndrome

Coded as:
Minimum review status of the submission for Jervell and Lange-Nielsen syndrome: Y axis collection method of the submission for Jervell and Lange-Nielsen syndrome:
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
0 132 0 25 12 1 3 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
Jervell and Lange-Nielsen syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
likely pathogenic 2 0 1 0 0 0 0
uncertain significance 0 1 0 6 1 0 0
likely benign 1 1 5 0 23 1 1
benign 0 0 1 0 0 0 0

Condition to condition summary #

Total conditions: 15
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
Long QT syndrome 0 142 0 19 5 1 2 24
not specified 0 11 0 20 3 0 0 23
not provided 0 8 0 8 5 1 0 12
Arrhythmia 0 9 0 10 1 0 0 11
Cardiovascular phenotype 0 13 0 8 2 0 0 10
Cardiac arrhythmia 0 0 0 3 0 0 0 3
Long QT syndrome 5 0 0 0 1 0 1 0 2
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 0 0 0 0 1 1
Jervell and Lange-Nielsen syndrome 2 0 0 0 1 0 0 0 1
KCNQ1-Related Disorders 0 0 0 0 1 0 0 1
Long QT syndrome 1 0 0 0 0 0 0 1 1
Long QT syndrome 2/5 0 0 0 0 0 0 1 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1
short QT syndrome 0 86 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1394-14C>T rs28730758
NM_000218.2(KCNQ1):c.1394-8C>T rs371488379
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1514+9C>T rs770840921
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.