ClinVar Miner

Variants with conflicting interpretations studied for Benign familial neonatal seizures

Coded as:
Minimum review status of the submission for Benign familial neonatal seizures: Y axis collection method of the submission for Benign familial neonatal seizures:
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
75 172 0 16 15 0 4 31

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 seizures pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0
uncertain significance 3 0 10 0
likely benign 3 8 0 7
benign 0 1 13 0

Condition to condition summary #

Total conditions: 7
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 10 0 12 8 0 0 20
Seizures 0 9 0 8 4 0 0 12
not provided 0 14 0 2 8 0 0 10
Benign Neonatal Epilepsy 0 162 0 5 4 0 0 9
Benign familial neonatal seizures 261 8 0 5 4 0 0 9
Benign familial neonatal seizures 2 0 5 0 2 1 0 2 5
Rolandic epilepsy 0 0 0 0 0 0 2 2

All variants with conflicting interpretations #

Total variants: 31
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HGVS dbSNP
NM_004519.4(KCNQ3):c.-138T>G rs868425061
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754
NM_004519.4(KCNQ3):c.1077G>A (p.Val359=) rs750375617
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) rs143664009
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met) rs199942237
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452
NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile) rs977989588
NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) rs138254004
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831
NM_004519.4(KCNQ3):c.2391C>T (p.His797=) rs763446963
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) rs796052672
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251

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