ClinVar Miner

Variants from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust with conflicting interpretations

Location: United Kingdom — Primary collection method: literature only
Minimum review status of the submission from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust: Collection method of the submission from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust:
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
1280 229 0 0 0 0 3 3

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.

All submitters
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust likely pathogenic uncertain significance
likely pathogenic 0 3
uncertain significance 3 0

Submitter to submitter summary #

Total submitters: 1
Download table as spreadsheet
Submitter 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
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1503 6 0 0 0 0 3 3

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028

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