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 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
291 22 0 17 12 0 0 29

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 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 7 5
likely benign 0 0 7 0 16
benign 0 0 5 16 0

Condition to condition summary #

Total conditions: 1
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
Hereditary sensory neuropathy type IE 291 22 0 17 12 0 0 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) rs529074384
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) rs147755768
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
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.4146G>A (p.Thr1382=) rs184125970
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=)
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098
NM_001130823.3(DNMT1):c.493+8C>T rs138998574
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431

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