ClinVar Miner

Variants from Shaikh Laboratory, University of Colorado with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Shaikh Laboratory, University of Colorado: Collection method of the submission from Shaikh Laboratory, University of Colorado:
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
17 1 0 4 0 0 1 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
Shaikh Laboratory, University of Colorado pathogenic uncertain significance
likely pathogenic 4 1

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Invitae 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) rs398123751
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729

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