ClinVar Miner

Variants with conflicting interpretations studied for Werner syndrome

Coded as:
Minimum review status of the submission for Werner syndrome: Y axis collection method of the submission for Werner syndrome:
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
588 51 3 21 21 0 0 41

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
Werner syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 3 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 7 10
likely benign 0 0 10 0 9
benign 0 0 11 13 0

Condition to condition summary #

Total conditions: 4
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
Werner syndrome 632 25 3 6 14 0 0 23
not specified 0 26 0 16 6 0 0 19
not provided 0 11 0 0 8 0 0 8
Medulloblastoma 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000553.4(WRN):c.1530A>T (p.Glu510Asp) rs149565907
NM_000553.4(WRN):c.1577-3C>A rs3087409
NM_000553.4(WRN):c.1717A>G (p.Thr573Ala) rs150148567
NM_000553.4(WRN):c.2067C>T (p.Ser689=) rs191757062
NM_000553.4(WRN):c.2361G>T (p.Leu787=) rs1800392
NM_000553.4(WRN):c.2735T>G (p.Ile912Ser) rs11574323
NM_000553.4(WRN):c.2784A>G (p.Gly928=) rs755729832
NM_000553.4(WRN):c.2950T>A (p.Leu984Ile) rs146443310
NM_000553.4(WRN):c.3138+6C>T rs3024239
NM_000553.4(WRN):c.3138+7G>A rs2737335
NM_000553.4(WRN):c.3139-1G>C rs113993961
NM_000553.4(WRN):c.3222G>T (p.Leu1074Phe) rs1801195
NM_000553.4(WRN):c.3236C>T (p.Ser1079Leu) rs3087414
NM_000553.4(WRN):c.3384-3T>C rs3087424
NM_000553.4(WRN):c.3422C>T (p.Ser1141Leu) rs139323683
NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs) rs281865160
NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.4(WRN):c.3972C>T (p.Pro1324=) rs370253199
NM_000553.4(WRN):c.4083C>T (p.Ser1361=) rs1801196
NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000553.5(WRN):c.107G>A (p.Arg36Gln) rs34084741
NM_000553.5(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000553.5(WRN):c.1149G>T (p.Leu383Phe) rs4987238
NM_000553.5(WRN):c.1155G>A (p.Glu385=) rs2230010
NM_000553.5(WRN):c.1161G>A (p.Met387Ile) rs1800391
NM_000553.5(WRN):c.1165del (p.Arg389Glufs) rs878854131
NM_000553.5(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.5(WRN):c.1953C>T (p.Gly651=) rs11574263
NM_000553.5(WRN):c.2241T>G (p.Leu747=) rs2230011
NM_000553.5(WRN):c.2500C>T (p.Arg834Cys) rs3087425
NM_000553.5(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.5(WRN):c.2983G>A (p.Ala995Thr) rs140768346
NM_000553.5(WRN):c.3139-9T>C rs377226126
NM_000553.5(WRN):c.340G>A (p.Val114Ile) rs2230009
NM_000553.5(WRN):c.3453G>A (p.Glu1151=) rs144116311
NM_000553.5(WRN):c.355+4G>C rs145764920
NM_000553.5(WRN):c.4035G>A (p.Thr1345=) rs767115441
NM_000553.5(WRN):c.720T>G (p.Asn240Lys) rs148229804
NM_000553.5(WRN):c.747C>T (p.Asp249=) rs374142752
NM_000553.5(WRN):c.95A>G (p.Lys32Arg) rs34477820
NM_000553.5(WRN):c.970A>G (p.Thr324Ala) rs1800390

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