ClinVar Miner

Variants with conflicting interpretations studied for Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11

Coded as:
Minimum review status of the submission for Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11: Y axis collection method of the submission for Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
90 33 0 38 23 0 5 55

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.

All conditions
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 2 1 0 6 0
likely benign 0 0 11 0 11
benign 0 0 6 23 0

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
Condition 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
not specified 0 28 0 19 14 0 2 32
Benign familial neonatal-infantile seizures 0 8 0 18 4 0 0 22
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 8 0 17 4 0 0 21
not provided 0 26 0 3 9 0 2 14
History of neurodevelopmental disorder 0 19 0 9 1 0 1 11
Early infantile epileptic encephalopathy 11 0 0 0 3 0 0 0 3
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 173 4 0 1 0 0 0 1
Rolandic epilepsy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 55
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HGVS dbSNP
NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_021007.2(SCN2A):c.1402_1404delTCT (p.Ser468del) rs780584405
NM_021007.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_021007.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546
NM_021007.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973
NM_021007.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_021007.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_021007.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_021007.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_021007.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_021007.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_021007.2(SCN2A):c.2562+5A>G rs374738441
NM_021007.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_021007.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.2919+8G>A rs552318566
NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_021007.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021007.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_021007.2(SCN2A):c.387-10G>A rs2304015
NM_021007.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_021007.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021007.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_021007.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_021007.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991
NM_021007.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_021007.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_021007.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_021007.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_021007.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_021007.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_021007.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_021007.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_021007.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_021007.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_021007.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_021007.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_021007.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_021007.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
NM_021007.2(SCN2A):c.960T>C (p.Ile320=) rs185590667

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