ClinVar Miner

Variants from Center for Individualized Medicine,Mayo Clinic with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Individualized Medicine,Mayo Clinic: Collection method of the submission from Center for Individualized Medicine,Mayo Clinic:
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
3 2 0 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
Center for Individualized Medicine,Mayo Clinic pathogenic
likely pathogenic 4

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
OMIM 0 0 0 1 0 0 0 1
Ambry Genetics 0 1 0 1 0 0 0 1
Invitae 0 1 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
Color 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_000051.3(ATM):c.4111delG (p.Asp1371Ilefs) rs797045114
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_020937.3(FANCM):c.1491dupA (p.Gln498Thrfs) rs797045116

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