ClinVar Miner

Variants from Center for Precision Medicine,Vanderbilt University Medical Center with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Precision Medicine,Vanderbilt University Medical Center: Collection method of the submission from Center for Precision Medicine,Vanderbilt 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
4 7 0 1 2 2 2 6

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 Precision Medicine,Vanderbilt University Medical Center likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 1 2 0 0 1 1
uncertain significance 0 0 2 2 0 0

Submitter to submitter summary #

Total submitters: 11
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
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2 0 1 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1 2
OMIM 0 3 0 0 0 1 0 1
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
GeneDx 0 2 0 0 1 0 0 1
Ambry Genetics 0 1 0 0 1 0 0 1
Invitae 0 6 0 0 1 0 0 1
Fulgent Genetics 0 2 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000456.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894

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