ClinVar Miner

Variants in gene EPCAM with conflicting interpretations

See also:
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 Variants with at least 2 submissions 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 kind of conflict
155 17 0 14 6 0 1 19

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 0 0
uncertain significance 1 0 4 4
likely benign 0 4 0 14
benign 0 4 14 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_002354.2(EPCAM):c.159A>C (p.Ala53=) rs150562209
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) rs1126497
NM_002354.2(EPCAM):c.426-1G>A rs373597944
NM_002354.2(EPCAM):c.458G>C (p.Arg153Thr) rs189732445
NM_002354.2(EPCAM):c.487C>T (p.Arg163Trp) rs148725106
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.50C>A (p.Thr17Lys) rs116429842
NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) rs74531854
NM_002354.2(EPCAM):c.5C>T (p.Ala2Val) rs201402370
NM_002354.2(EPCAM):c.63C>G (p.Ala21=) rs549177672
NM_002354.2(EPCAM):c.76+6G>T rs774722931
NM_002354.2(EPCAM):c.77-11T>A rs114241106
NM_002354.2(EPCAM):c.831A>G (p.Ile277Met) rs115283528
NM_002354.2(EPCAM):c.858G>A (p.Leu286=) rs138718438
NM_002354.2(EPCAM):c.859-6A>G rs150307203
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NM_002354.2(EPCAM):c.904-12T>C rs62139669
NM_002354.2(EPCAM):c.93C>G (p.Asn31Lys) rs555329870

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.