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
1444 151 0 16 36 0 0 48

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 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 33 7
likely benign 0 0 33 0 13
benign 0 0 7 13 0

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) rs73969174 0.00763
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227 0.00156
NM_006922.4(SCN3A):c.1380+12T>C rs146105464 0.00125
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00063
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00042
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00036
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101 0.00025
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00024
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg) rs143763998 0.00020
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.2181G>A (p.Pro727=) rs138350988 0.00015
NM_006922.4(SCN3A):c.207T>A (p.Pro69=) rs754282083 0.00013
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) rs765013479 0.00010
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys) rs755167692 0.00006
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) rs138331141 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00004
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) rs776260027 0.00004
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln) rs747726149 0.00003
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) rs376381280 0.00003
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420 0.00003
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) rs761584493 0.00003
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052 0.00002
NM_006922.4(SCN3A):c.2019+8T>C rs1159326316 0.00002
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=) rs767052591 0.00002
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu) rs977221211 0.00002
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg) rs774375940 0.00001
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val) rs377507565 0.00001
NM_006922.4(SCN3A):c.1617C>T (p.Phe539=)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) rs1018125027
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274

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