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 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
541 53 3 20 9 0 3 33

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 11 0 0 0
likely pathogenic 11 0 3 0 0
uncertain significance 0 3 0 9 0
likely benign 0 0 9 0 9
benign 0 0 0 9 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00059
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00057
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_181426.2(CCDC39):c.1035-5T>C rs200089274 0.00021
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) rs587778822
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386

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