ClinVar Miner

Variants with conflicting interpretations studied for Naxos disease

Coded as:
Minimum review status of the submission for Naxos disease: Y axis collection method of the submission for Naxos disease:
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
5 30 1 10 11 0 0 22

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
Naxos disease pathogenic likely benign benign
pathogenic 1 0 0
uncertain significance 0 11 3
likely benign 0 0 10
benign 0 1 0

Condition to condition summary #

Total conditions: 9
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 3 0 10 8 0 0 18
Cardiovascular phenotype 0 1 0 7 3 0 0 10
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 4 0 5 5 0 0 10
Cardiomyopathy 0 1 0 4 2 0 0 6
Cardiac arrhythmia 0 0 0 2 1 0 0 3
Naxos disease 55 0 1 1 0 0 0 2
not provided 0 4 1 0 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 49 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1055-14delT rs140002183
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.2(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.2(JUP):c.1854C>T (p.Ala618=) rs782176670
NM_002230.2(JUP):c.2038_2039delTG (p.Trp680Glyfs) rs113994177
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.909+6C>T rs193922705
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1653+10C>A rs73983658
NM_021991.3(JUP):c.1774-13C>T rs116772523
NM_021991.3(JUP):c.2047-14C>G rs116666639
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407

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