ClinVar Miner

Variants in gene SCN8A with conflicting interpretations

See also:
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:

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
2222 126 0 55 34 0 14 93

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 14 5 0 0
likely pathogenic 14 0 10 0 0
uncertain significance 5 10 0 32 11
likely benign 0 0 32 0 41
benign 0 0 11 41 0

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01324
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01269
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01080
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00495
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00165
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00050
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=) rs374213514 0.00046
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) rs372388512 0.00045
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00024
NM_001330260.2(SCN8A):c.2370+14_2370+15del rs768088808 0.00023
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.3820-7T>C rs375785915 0.00019
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00017
NM_001330260.2(SCN8A):c.5619C>T (p.Phe1873=) rs372752853 0.00016
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331 0.00009
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001330260.2(SCN8A):c.-67C>T rs374729451 0.00006
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872 0.00006
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820 0.00005
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val) rs755154133 0.00002
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro) rs753009673 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg) rs1037521613 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=) rs552307188 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=) rs565852557 0.00001
NM_001330260.2(SCN8A):c.929-4C>G rs771227940 0.00001
NM_001330260.2(SCN8A):c.1093C>T (p.Arg365Cys) rs867660463
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2548C>T (p.Arg850Ter) rs1555225782
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser) rs776493877
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.5046C>G (p.Ile1682Met)
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487

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