ClinVar Miner

Variants with conflicting interpretations studied for Brugada syndrome 1

Coded as:
Minimum review status of the submission for Brugada syndrome 1: Y axis collection method of the submission for Brugada syndrome 1:
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
17 15 0 12 4 1 9 21

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
Brugada syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 11 7 1 1 1
likely pathogenic 3 0 4 0 0 0
uncertain significance 0 1 0 3 1 0
benign 0 0 1 1 0 0

Condition to condition summary #

Total conditions: 18
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
Brugada syndrome 0 12 0 6 3 0 8 17
not provided 0 8 0 6 3 0 4 12
Cardiovascular phenotype 0 5 0 3 2 0 1 6
not specified 0 5 0 0 2 0 3 5
Arrhythmia 0 0 0 0 3 0 1 4
Brugada syndrome 1 48 1 0 3 0 0 1 4
Long QT syndrome 3 0 2 0 2 0 0 2 4
Primary familial hypertrophic cardiomyopathy 0 0 0 0 0 0 2 2
Brugada syndrome 1; Long QT syndrome 3 0 0 0 0 1 0 0 1
Cardiomyopathy 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 0 1
Long QT syndrome 11 0 0 0 1 0 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 0 1 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 1 0 0 0 1
Romano-Ward syndrome 0 0 0 0 1 0 0 1
SCN5A-Related Disorders 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3694C>T (p.Arg1232Trp) rs199473207
NM_198056.2(SCN5A):c.3727G>A (p.Asp1243Asn) rs199473599
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4534C>T (p.Arg1512Trp) rs137854602
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082

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