ClinVar Miner

Variants in gene combination LOC110121269, SCN5A with conflicting interpretations

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X axis minimum submission review status: X axis collection method:
Minimum conflict level:
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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
182 24 0 8 14 1 3 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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 3 3 1 1 1
likely pathogenic 3 0 1 0 0 0
uncertain significance 3 1 0 13 4 1
likely benign 1 0 13 0 5 1
benign 1 0 4 5 0 1
risk factor 1 0 1 1 1 0

All variants with conflicting interpretations #

Total variants: 21
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NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585
NM_001160161.1(SCN5A):c.3228+1526G>A rs199473193
NM_198056.2(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_198056.2(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165
NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) rs781529391
NM_198056.2(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
NM_198056.2(SCN5A):c.3292G>T (p.Val1098Leu) rs199473191
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=) rs561922849

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