ClinVar Miner

Variants in gene CCDC39 with conflicting interpretations

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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 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
91 10 3 9 14 0 2 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 2 2 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 2 0 0 9 5
likely benign 0 0 9 0 7
benign 0 0 5 7 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_181426.1(CCDC39):c.1072delA (p.Thr358Glnfs) rs587778822
NM_181426.1(CCDC39):c.1363-3delC rs551191744
NM_181426.1(CCDC39):c.2190del (p.Glu731Asnfs) rs587778820
NM_181426.1(CCDC39):c.830_831delCA (p.Thr277Argfs) rs773801386
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972
NM_181426.2(CCDC39):c.1034+2T>A rs1210953680
NM_181426.2(CCDC39):c.1035-5T>C rs200089274
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) rs2338436
NM_181426.2(CCDC39):c.1363-13dup rs374074877
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159
NM_181426.2(CCDC39):c.210+4C>T rs182803063
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu) rs61733579
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495
NM_181426.2(CCDC39):c.357+1G>C rs397515392
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) rs57838737
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898
NM_181426.2(CCDC39):c.930+12C>G rs1401333

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