ClinVar Miner

Variants with conflicting interpretations studied for Severe myoclonic epilepsy in infancy

Coded as:
Minimum review status of the submission for Severe myoclonic epilepsy in infancy: Y axis collection method of the submission for Severe myoclonic epilepsy in infancy:
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
323 256 0 48 29 0 15 79

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
Severe myoclonic epilepsy in infancy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 6 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 1 1 0 10 5
likely benign 6 1 16 0 20
benign 0 0 1 18 0

Condition to condition summary #

Total conditions: 23
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 19 0 28 11 0 0 38
not provided 0 92 0 11 12 0 8 30
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 18 0 16 12 0 0 27
Severe myoclonic epilepsy in infancy 608 44 0 5 1 0 0 6
Seizures 0 6 0 2 3 0 0 5
Early infantile epileptic encephalopathy 0 40 0 2 1 0 1 4
Primary erythromelalgia 0 0 0 0 2 0 2 4
Small fiber neuropathy 0 152 0 0 1 0 3 4
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 2 1 0 0 3
Epilepsy 0 1 0 2 0 0 0 2
Familial hemiplegic migraine 0 1 0 2 0 0 0 2
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 8 0 1 0 0 1 2
Generalized epilepsy with febrile seizures plus, type 2 0 13 0 0 0 0 2 2
Paroxysmal extreme pain disorder 0 154 0 0 1 0 1 2
Rolandic epilepsy 0 0 0 0 0 0 2 2
Congenital Indifference to Pain 0 155 0 0 1 0 0 1
Familial Febrile Seizures 0 155 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus 0 208 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type IIA 0 0 0 0 1 0 0 1
History of neurodevelopmental disorder 0 11 0 1 0 0 0 1
Inherited Erythromelalgia 0 155 0 0 1 0 0 1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 0 0 1
Seizures; Delayed speech and language development 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 79
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HGVS dbSNP
NM_000816.3(GABRG2):c.-4delA rs771282908
NM_000816.3(GABRG2):c.-4dupA rs771282908
NM_000816.3(GABRG2):c.107+12C>T rs369466385
NM_000816.3(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_000816.3(GABRG2):c.1365G>A (p.Leu455=) rs765904792
NM_000816.3(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_000816.3(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_000816.3(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_000816.3(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_000816.3(GABRG2):c.717A>G (p.Gln239=) rs78261481
NM_000816.3(GABRG2):c.768C>T (p.Ser256=) rs201672465
NM_000816.3(GABRG2):c.922+6A>G rs375294947
NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.1(SCN1A):c.694+5G>C rs727504142
NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.1(SCN1A):c.965-1G>A rs794726824
NM_001202435.2(SCN1A):c.602+1G>A rs794726827
NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_002977.3(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_002977.3(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_002977.3(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_002977.3(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_002977.3(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_002977.3(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_002977.3(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_002977.3(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_002977.3(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_002977.3(SCN9A):c.1942-3delT rs35888674
NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) rs200014315
NM_002977.3(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.2428G>A (p.Val810Met) rs41268671
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) rs4369876
NM_002977.3(SCN9A):c.2987G>A (p.Arg996His) rs188145203
NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) rs77144869
NM_002977.3(SCN9A):c.3651T>C (p.Tyr1217=) rs144941725
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.3769-8T>C rs76550960
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) rs188336294
NM_002977.3(SCN9A):c.4366-14G>T rs112927502
NM_002977.3(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_002977.3(SCN9A):c.4462C>A (p.Arg1488=) rs187558439
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_002977.3(SCN9A):c.4779G>T (p.Val1593=) rs149207258
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) rs3750904
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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