ClinVar Miner

Variants in gene combination LOC110121269, SCN5A with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
75 42 0 12 10 1 5 23

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 6 3 1 1 1
likely pathogenic 6 0 4 0 0 0
uncertain significance 3 4 0 9 2 1
likely benign 1 0 9 0 6 1
benign 1 0 2 6 0 1
risk factor 1 0 1 1 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_198056.2(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825
NM_198056.2(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667
NM_198056.2(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183
NM_198056.2(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_198056.2(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185
NM_198056.2(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_198056.2(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3246G>A (p.Val1082=) rs41312407
NM_198056.2(SCN5A):c.3247del (p.Ser1083fs) rs1064795784
NM_198056.2(SCN5A):c.3249C>T (p.Ser1083=) rs111422496
NM_198056.2(SCN5A):c.3262G>A (p.Ala1088Thr) rs369704754
NM_198056.2(SCN5A):c.3269C>T (p.Pro1090Leu) rs1805125
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3347G>A (p.Arg1116Gln) rs369678002
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585

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