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 per condition Variants with at least 2 submissions on the same condition 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 conflict
4 1 0 5 0 0 0 5

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 5

Submitter to submitter summary #

Total submitters: 8
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Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Invitae 0 1 0 3 0 0 0 3
Baylor Genetics 0 1 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Leiden Open Variation Database 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_000051.4(ATM):c.4111del rs797045114
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118

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