ClinVar Miner

Variants with conflicting interpretations studied for Lissencephaly 2; Epilepsy, familial temporal lobe, 7

Coded as:
Minimum review status of the submission for Lissencephaly 2; Epilepsy, familial temporal lobe, 7: Y axis collection method of the submission for Lissencephaly 2; Epilepsy, familial temporal lobe, 7:
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
164 57 0 5 6 0 2 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
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 pathogenic uncertain significance likely benign benign
uncertain significance 2 0 0 1
likely benign 0 5 0 0
benign 0 0 5 0

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
Lissencephaly, Recessive 0 8 0 4 2 0 0 6
not specified 0 11 0 4 2 0 0 6
not provided 0 49 0 0 2 0 0 2
Epilepsy, familial temporal lobe, 7 0 0 0 0 0 0 1 1
Rolandic epilepsy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974

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