ClinVar Miner

Variants in gene SCN8A 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
401 46 0 32 19 0 13 58

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 6 7 0 0
likely pathogenic 6 0 8 0 0
uncertain significance 7 8 0 18 5
likely benign 0 0 18 0 26
benign 0 0 5 26 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_014191.3(SCN8A):c.*3_*5delGAG rs555793953
NM_014191.3(SCN8A):c.-67C>T rs374729451
NM_014191.3(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.3(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.3(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_014191.3(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.3(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.3(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.3(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_014191.3(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.3(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.3(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.3(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.3(SCN8A):c.1999-5del rs769940455
NM_014191.3(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_014191.3(SCN8A):c.2371-6A>G rs187002252
NM_014191.3(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.3(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.3(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_014191.3(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_014191.3(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.3(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_014191.3(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014191.3(SCN8A):c.3321C>T (p.Asn1107=) rs374213514
NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.3(SCN8A):c.3942+7T>C rs757990460
NM_014191.3(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_014191.3(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_014191.3(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.3(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.3(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014191.3(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.3(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.3(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.3(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.3(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.3(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_014191.3(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_014191.3(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.3(SCN8A):c.4795+11T>C rs143139673
NM_014191.3(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.3(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.3(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_014191.3(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.3(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_014191.3(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.3(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.3(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.3(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.3(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.3(SCN8A):c.928+9C>T rs148027656

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