ClinVar Miner

Variants from Center for Human Disease Modeling,Duke University Medical Center with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Human Disease Modeling,Duke University Medical Center: Collection method of the submission from Center for Human Disease Modeling,Duke University Medical Center:
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
16 0 0 5 0 0 2 7

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
Center for Human Disease Modeling,Duke University Medical Center pathogenic
likely pathogenic 5
uncertain significance 2

Submitter to submitter summary #

Total submitters: 1
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
OMIM 0 0 0 5 0 0 2 7

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_001105537.3(ZNF142):c.1292delG (p.Cys431Leufs) rs1559296368
NM_001105537.3(ZNF142):c.3175C>T (p.Arg1059Ter) rs546151500
NM_001105537.3(ZNF142):c.3698G>T (p.Cys1233Phe) rs1275959058
NM_001105537.3(ZNF142):c.4498C>T (p.Arg1500Trp) rs367658234
NM_001105537.3(ZNF142):c.817_818delAA (p.Lys273Glufs) rs1447313633
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]

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