ClinVar Miner

Variants in gene SCN3A with conflicting interpretations

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 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
514 30 0 5 17 0 0 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
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 14 4
likely benign 0 0 14 0 4
benign 0 0 4 4 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_006922.4(SCN3A):c.1381-4A>G rs199597878
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) rs138331141
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668
NM_006922.4(SCN3A):c.474-4C>T rs371709966
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408
NM_006922.4(SCN3A):c.560G>A (p.Arg187His)
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227

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