ClinVar Miner

Variants from Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics: Collection method of the submission from Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics:
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
28 21 1 6 0 0 2 8

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
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 2 0 0
likely pathogenic 1 0 0 0 0
likely benign 0 0 0 0 2
benign 0 0 0 2 0

Submitter to submitter summary #

Total submitters: 6
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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 2 3
GeneDx 0 12 0 2 0 0 0 2
OMIM 0 5 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 12 0 1 0 0 0 1
Invitae 0 11 0 1 0 0 0 1
GeneReviews 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_014795.3(ZEB2):c.304A>T (p.Ile102Phe) rs201109457
NM_014795.3(ZEB2):c.3067+6A>T rs143450927
NM_014795.3(ZEB2):c.403+18C>T rs116404871

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