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 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
674 40 0 27 25 0 5 52

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 5 3 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 3 3 0 21 7
likely benign 0 0 21 0 22
benign 0 0 7 22 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_001330260.2(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252
NM_001330260.2(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=) rs376102810
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_001330260.2(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_001330260.2(SCN8A):c.928+9C>T rs148027656
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln)

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