ClinVar Miner

Variants in gene CC2D1A with conflicting interpretations

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
105 14 0 15 13 0 2 26

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 uncertain significance likely benign benign
pathogenic 0 1 1 2
uncertain significance 1 0 10 5
likely benign 1 10 0 15
benign 2 5 15 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633
NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=) rs35337537
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=) rs147905122
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777
NM_017721.5(CC2D1A):c.2430C>G (p.Asp810Glu) rs199683318
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667
NM_017721.5(CC2D1A):c.513+6_513+12del rs541952457
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840
NM_017721.5(CC2D1A):c.698C>T (p.Ala233Val) rs181548764
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.