ClinVar Miner

Variants with conflicting interpretations studied for Epilepsy juvenile absence; Juvenile myoclonic epilepsy

Coded as:
Minimum review status of the submission for Epilepsy juvenile absence; Juvenile myoclonic epilepsy: Y axis collection method of the submission for Epilepsy juvenile absence; Juvenile myoclonic epilepsy:
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
60 24 0 16 14 1 0 21

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 juvenile absence; Juvenile myoclonic epilepsy uncertain significance likely benign benign risk factor
uncertain significance 0 1 1 0
likely benign 4 0 2 0
benign 9 14 0 1

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 specified 0 10 0 13 5 0 0 15
not provided 0 17 0 6 7 0 0 12
Juvenile myoclonic epilepsy 0 5 0 1 6 0 0 7
Epilepsy juvenile absence; Juvenile myoclonic epilepsy 101 3 0 0 1 0 0 1
Myoclonic epilepsy, juvenile 1 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 21
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HGVS dbSNP
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1852-6C>G rs372507832
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638

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