ClinVar Miner

Variants with conflicting interpretations studied for WFS1-Related Spectrum Disorders

Coded as:
Minimum review status of the submission for WFS1-Related Spectrum Disorders: Y axis collection method of the submission for WFS1-Related Spectrum Disorders:
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
2 65 1 46 10 0 4 53

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
WFS1-Related Spectrum Disorders pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 1 0 4 1
likely benign 0 0 6 1 37
benign 1 0 0 7 0

Condition to condition summary #

Total conditions: 7
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 6 0 44 5 0 1 49
not provided 0 8 1 11 4 0 2 16
Monogenic diabetes 0 1 0 7 2 0 1 10
WFS1-Related Disorders 0 0 0 1 1 0 1 3
Diabetes mellitus AND insipidus with optic atrophy AND deafness 0 1 0 0 1 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 0 0 1 1
Wolfram syndrome 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404
NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs) rs863224264
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363

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