ClinVar Miner

Variants from Department of Molecular Diagnostics,Institute of Oncology with conflicting interpretations

Location: Slovenia — Primary collection method: clinical testing
Minimum review status of the submission from Department of Molecular Diagnostics,Institute of Oncology: Collection method of the submission from Department of Molecular Diagnostics,Institute of Oncology:
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
31 2 1 4 0 0 0 4

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
Department of Molecular Diagnostics,Institute of Oncology pathogenic likely pathogenic
pathogenic 1 3
likely pathogenic 1 0

Submitter to submitter summary #

Total submitters: 5
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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 2 0 2 0 0 0 2
Ambry Genetics 0 1 0 1 0 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Color 0 1 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_058216.3(RAD51C):c.572-1G>C rs1413872299

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