ClinVar Miner

Variants with conflicting interpretations studied for Juvenile myoclonic epilepsy

Coded as:
Minimum review status of the submission for Juvenile myoclonic epilepsy: Y axis collection method of the submission for 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
100 99 0 16 20 2 2 37

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
Juvenile myoclonic epilepsy pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 1 0 0 1
uncertain significance 1 0 11 10 0
likely benign 1 5 0 11 1
benign 0 1 9 0 0

Condition to condition summary #

Total conditions: 11
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 1 0 16 16 0 0 32
Epilepsy juvenile absence; Juvenile myoclonic epilepsy 0 5 0 1 6 0 0 7
not provided 0 6 0 1 5 0 1 7
Juvenile myoclonic epilepsy 229 1 0 4 1 0 1 6
Idiopathic generalized epilepsy 0 4 0 2 1 0 0 3
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 0 0 0 0 3 0 0 3
Epilepsy, idiopathic generalized 9 0 0 0 0 1 1 0 2
Epilepsy, idiopathic generalized 9; Episodic ataxia, type 5 0 0 0 0 2 0 0 2
Myoclonic epilepsy, juvenile 1 0 0 0 0 1 1 0 2
Seizures 0 0 0 1 1 0 0 2
Episodic ataxia, type 5 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) rs1805029
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.599-15G>A rs41270209
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.74+9A>T rs41275339
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_001127644.2(GABRA1):c.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001127644.2(GABRA1):c.255+12C>T rs144727170
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
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.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505
NM_018100.4(EFHC1):c.573+10A>G rs9349626
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
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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