ClinVar Miner

Variants with conflicting interpretations studied for Progressive myoclonic epilepsy

Coded as:
Minimum review status of the submission for Progressive myoclonic epilepsy: Y axis collection method of the submission for Progressive 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
257 50 0 34 28 0 4 55

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
Progressive myoclonic epilepsy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 3 1 0 13 8
likely benign 0 0 12 0 15
benign 0 0 4 15 0

Condition to condition summary #

Total conditions: 13
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 27 0 24 15 0 0 36
not provided 0 44 0 4 12 0 1 17
Seizures 0 23 0 10 6 0 0 15
Progressive myoclonic epilepsy 358 0 0 1 3 0 0 4
Unverricht-Lundborg syndrome 0 1 0 3 1 0 0 4
Epilepsy, progressive myoclonic 3 0 2 0 1 2 0 0 3
Epilepsy, progressive myoclonic 4, with or without renal failure 0 3 0 1 2 0 0 3
Epilepsy, progressive myoclonic 5 0 1 0 1 1 0 0 2
Lafora disease 0 6 0 1 1 0 1 2
Rolandic epilepsy 0 0 0 0 0 0 2 2
Cataract; Microcephaly; Severe global developmental delay 0 0 0 0 1 0 0 1
Epilepsy, progressive myoclonic 6 0 1 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1Asnfs) rs1044894207
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004287.4(GOSR2):c.*18G>T rs778066395
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.29+13C>T rs747791818
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) rs138510884
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.369A>G (p.Ser123=) rs150381512
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.447T>C (p.Asp149=) rs750298260
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_005506.3(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.3(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.3(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.3(SCARB2):c.424-4G>A rs368869126
NM_005506.3(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.3(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.3(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.3(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005670.3(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.3(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.3(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.3(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.3(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.3(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.3(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.3(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.3(EPM2A):c.719-4G>A rs145030227
NM_005670.3(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.3(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.3(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_153033.4(KCTD7):c.-49C>T rs374505432
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_198859.3(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722
NM_198859.3(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.3(PRICKLE2):c.259-6A>G rs2306380
NM_198859.3(PRICKLE2):c.579G>A (p.Pro193=) rs17720698
NM_198859.3(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.3(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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