ClinVar Miner

Variants from CeMIA with conflicting interpretations

Location: Greece — Primary collection method: clinical testing
Minimum review status of the submission from CeMIA: Collection method of the submission from CeMIA:
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
64 7 0 2 1 1 0 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
CeMIA pathogenic likely benign benign other
likely pathogenic 1 0 0 0
uncertain significance 0 1 1 1
likely benign 0 0 1 0

Submitter to submitter summary #

Total submitters: 8
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
Illumina Clinical Services Laboratory,Illumina 0 5 0 1 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
Invitae 0 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Color Health, Inc 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 3
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HGVS dbSNP
NM_000169.2(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) rs2230939

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