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
1626 239 0 17 45 1 3 61

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 protective other
pathogenic 0 3 0 0 0 0 0
likely pathogenic 4 0 3 1 1 1 1
uncertain significance 0 2 0 41 7 0 0
likely benign 0 0 41 0 13 0 0
benign 0 0 7 13 0 0 0

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) rs73969174 0.00694
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00507
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.5220C>T (p.Asp1740=) rs141247068 0.00115
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00066
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00037
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00032
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.642G>A (p.Ala214=) rs575814709 0.00023
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg) rs143763998 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00018
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.1687C>T (p.Arg563Cys) rs202004044 0.00015
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.4899T>A (p.Arg1633=) rs748935500 0.00009
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00008
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) rs138331141 0.00006
NM_006922.4(SCN3A):c.3449G>A (p.Arg1150Gln) rs775381308 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys) rs755167692 0.00005
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00005
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 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.4117T>C (p.Phe1373Leu) rs977221211 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.3110T>C (p.Ile1037Thr) rs188214239 0.00002
NM_006922.4(SCN3A):c.991C>A (p.Gln331Lys) rs771446983 0.00002
NM_006922.4(SCN3A):c.1617C>T (p.Phe539=) rs200237385 0.00001
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.1991C>T (p.Thr664Met) rs201168906 0.00001
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=) rs767052591 0.00001
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg) rs774375940 0.00001
NM_006922.4(SCN3A):c.3736G>C (p.Val1246Leu) rs761181797 0.00001
NM_006922.4(SCN3A):c.4106C>T (p.Thr1369Met) rs754584273 0.00001
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val) rs377507565 0.00001
NM_006922.4(SCN3A):c.2293G>A (p.Ala765Thr) rs1687767627
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.346C>T (p.Pro116Ser)
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.5090A>G (p.Asn1697Ser) rs1685074140
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.