ClinVar Miner

Variants with conflicting interpretations studied for Epilepsy, familial focal, with variable foci 1

Coded as:
Minimum review status of the submission for Epilepsy, familial focal, with variable foci 1: Y axis collection method of the submission for Epilepsy, familial focal, with variable foci 1:
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
259 69 0 8 10 0 9 26

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
Epilepsy, familial focal, with variable foci 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 1 0
uncertain significance 6 0 0 4 2
likely benign 1 0 3 0 1
benign 2 0 3 6 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
Seizures 0 35 0 4 6 0 2 12
Rolandic epilepsy 0 1 0 0 0 0 8 8
not provided 0 22 0 4 3 0 0 7
Epilepsy, familial focal, with variable foci 1 322 28 0 0 2 0 2 4
not specified 0 16 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 26
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HGVS dbSNP
NM_001242897.2(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.146+5G>A rs748264035
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.1870+2315C>T rs780960812
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.1901C>T (p.Ser634Phe) rs16989535
NM_001242897.2(DEPDC5):c.194-5T>C rs752848631
NM_001242897.2(DEPDC5):c.2052C>T (p.Asp684=) rs200465447
NM_001242897.2(DEPDC5):c.2053C>T (p.Arg685Cys)
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2438G>C (p.Ser813Thr) rs185576553
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3031-10del rs377356885
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.3267A>G (p.Thr1089=) rs142197878
NM_001242897.2(DEPDC5):c.3343G>A (p.Val1115Met) rs201603222
NM_001242897.2(DEPDC5):c.3510C>T (p.Ala1170=) rs200033252
NM_001242897.2(DEPDC5):c.4459C>T (p.Leu1487=) rs1569256444
NM_001242897.2(DEPDC5):c.814G>A (p.Val272Ile) rs187334123
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123

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