ClinVar Miner

Variants with conflicting interpretations between Klaassen Lab, Charite University Medicine Berlin and Ambry Genetics

Minimum review status of the submission from Klaassen Lab, Charite University Medicine Berlin: Collection method of the submission from Klaassen Lab, Charite University Medicine Berlin:
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
30 9 0 2 0 0 4 6

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 1 0
likely pathogenic 1 0 4

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029

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.