ClinVar Miner

Variants in gene ENG with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
464 46 0 24 14 0 2 38

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 1 1 0
likely pathogenic 8 0 1 0 0
uncertain significance 1 1 0 12 3
likely benign 1 0 12 0 16
benign 0 0 3 16 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658

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