ClinVar Miner

Variants with conflicting interpretations studied for Juvenile myoclonic epilepsy

Coded as:
Minimum review status of the submission for Juvenile myoclonic epilepsy: 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 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
137 9 0 23 25 0 1 45

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
pathogenic 0 1 0 0
uncertain significance 1 0 14 12
likely benign 0 5 0 18
benign 0 1 9 0

Condition to condition summary #

Total conditions: 8
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 12 0 17 15 0 1 31
not specified 0 2 0 15 12 0 0 25
Juvenile myoclonic epilepsy 183 1 0 4 2 0 1 7
EFHC1-related condition 0 0 0 1 2 0 0 3
CACNB4-related condition 0 2 0 1 1 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 0 0 0 0 2 0 0 2
GABRA1-related condition 0 0 0 0 1 0 0 1
Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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