ClinVar Miner

Variants from Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute: Collection method of the submission from Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute:
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 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
11 10 0 7 4 0 2 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.

All submitters
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute likely pathogenic uncertain significance likely benign benign
pathogenic 7 2 1 0
uncertain significance 0 0 3 3

Submitter to submitter summary #

Total submitters: 12
Download table as spreadsheet
Submitter 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
Invitae 0 4 0 5 1 0 1 7
Color 0 0 0 0 3 0 1 4
GeneDx 0 7 0 0 2 0 1 3
Ambry Genetics 0 7 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 1 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 2 0 0 2
PreventionGenetics 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 0 1 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 4 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.210-39A>G rs370918174
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.253+1G>A rs587776667
NM_000314.6(PTEN):c.253+5G>A rs1554897889
NM_000314.6(PTEN):c.253+5G>T rs1554897889
NM_000314.6(PTEN):c.254-30dupT rs77494260
NM_000314.6(PTEN):c.634+5G>C rs138336847
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.802-51_802-14del38 rs557364463
NM_000314.7(PTEN):c.79+7A>G rs374331677

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