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: 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 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
26 5 0 7 6 0 0 13

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 pathogenic likely benign benign
pathogenic 1 0 0
uncertain significance 0 5 3
likely benign 0 0 6

Condition to condition summary #

Total conditions: 6
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
not provided 0 8 0 5 5 0 0 10
not specified 0 3 0 6 3 0 0 9
Abnormality of the nervous system 0 0 0 1 0 0 0 1
PLCB1-related condition 0 0 0 0 1 0 0 1
See cases 0 0 0 0 1 0 0 1
WWOX-related condition 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_001191061.2(SLC25A22):c.-72TCCACC[4] rs145401722
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)

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