ClinVar Miner

Variants with conflicting interpretations between Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and Baylor Genetics

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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 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
31 18 0 10 0 0 3 13

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
pathogenic 0 2 0
likely pathogenic 9 0 2
uncertain significance 0 1 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
Single allele

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.