ClinVar Miner

Variants with conflicting interpretations studied for Early infantile epileptic encephalopathy with suppression bursts

Coded as:
Minimum review status of the submission for Early infantile epileptic encephalopathy with suppression bursts: Collection method of the submission for Early infantile epileptic encephalopathy with suppression bursts:
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 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
14026 66 0 28 5 0 2 35

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
Early infantile epileptic encephalopathy with suppression bursts pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 19 1 0
likely pathogenic 2 0 1 0
uncertain significance 0 1 0 1
likely benign 0 0 5 0
benign 0 0 0 7

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
Developmental and epileptic encephalopathy, 4 0 40 0 19 4 0 1 24
Developmental and epileptic encephalopathy, 11 0 4 0 4 0 0 0 4
Developmental and epileptic encephalopathy, 17 0 12 0 4 0 0 0 4
Early infantile epileptic encephalopathy with suppression bursts 14114 11 0 0 1 0 1 2
Developmental and epileptic encephalopathy, 4; Cerebellar vermis hypoplasia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00318
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00150
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00079
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00048
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) rs761523326 0.00003
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1030-2A>G rs2538558406
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001032221.6(STXBP1):c.1461+1G>T rs2538589846
NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg) rs2539639191
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser) rs1841136116
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val) rs375972545
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) rs2143272162
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939

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