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
104 30 0 11 7 0 8 24

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 6 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 2 5 0 5 0
likely benign 0 0 2 0 1
benign 0 0 0 2 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 6 0 2 6 0 2 10
Early infantile epileptic encephalopathy 11 0 1 0 5 0 0 3 8
not provided 0 26 0 1 3 0 3 7
Benign familial neonatal-infantile seizures 0 5 0 4 0 0 1 5
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 152 5 0 1 0 0 0 1
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 3 0 1 0 0 0 1
History of neurodevelopmental disorder 0 5 0 0 0 0 1 1
Rolandic epilepsy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 24
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HGVS dbSNP
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700

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