ClinVar Miner

Variants with conflicting interpretations studied for Early Infantile Epileptic Encephalopathy, Autosomal Recessive

Coded as:
Minimum review status of the submission for Early Infantile Epileptic Encephalopathy, Autosomal Recessive: Y axis collection method of the submission for Early Infantile Epileptic Encephalopathy, Autosomal Recessive:
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
101 7 0 17 33 0 0 50

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, Autosomal Recessive likely benign benign
uncertain significance 28 18
likely benign 0 17

Condition to condition summary #

Total conditions: 5
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 provided 0 6 0 8 29 0 0 37
not specified 0 6 0 16 18 0 0 34
Seizures 0 3 0 12 14 0 0 26
Early infantile epileptic encephalopathy 12 0 6 0 3 1 0 0 4
Early infantile epileptic encephalopathy 0 3 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 50
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HGVS dbSNP
NM_001191061.2(SLC25A22):c.*17A>C rs554507285
NM_001191061.2(SLC25A22):c.-151G>A rs587781167
NM_001191061.2(SLC25A22):c.-163-881C>T rs115490180
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) rs201574228
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974
NM_001191061.2(SLC25A22):c.413-12C>T rs587781169
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061
NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) rs768604742
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804
NM_001191061.2(SLC25A22):c.742+9A>G rs370309722
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453
NM_015192.4(PLCB1):c.1167+7T>C rs45466294
NM_015192.4(PLCB1):c.1251-4T>G rs2076689
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401
NM_015192.4(PLCB1):c.1581+15C>T rs79284104
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963
NM_015192.4(PLCB1):c.1678+10C>T rs369652433
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778
NM_015192.4(PLCB1):c.695+10C>G rs763454386
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003
NM_015192.4(PLCB1):c.99+8T>C rs6086350

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