ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory neuropathy type IE

Coded as:
Minimum review status of the submission for Hereditary sensory neuropathy type IE: Y axis collection method of the submission for Hereditary sensory neuropathy type IE:
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
103 33 0 16 13 0 1 28

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
Hereditary sensory neuropathy type IE pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 0 0 5 0
likely benign 0 0 7 0 2
benign 0 0 1 13 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
Dementia, Deafness, and Sensory Neuropathy 0 11 0 9 7 0 0 16
not specified 0 18 0 8 5 0 0 13
not provided 0 17 0 2 3 0 0 5
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Hereditary sensory neuropathy type IE 163 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
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HGVS dbSNP
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) rs147235870
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051
NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) rs141856197
NM_001130823.3(DNMT1):c.3806+6C>T rs371779379
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813
NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) rs150774582
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699
NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) rs2229858
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) rs141264613
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) rs201025441
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) rs61758430
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044

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