ClinVar Miner

Variants from UCL Genetics Institute,UCL with conflicting interpretations

Location: United Kingdom — Primary collection method: case-control
Minimum review status of the submission from UCL Genetics Institute,UCL: Collection method of the submission from UCL Genetics Institute,UCL:
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
0 0 0 0 0 2 1 3

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
UCL Genetics Institute,UCL pathogenic uncertain significance likely benign benign
uncertain significance 1 0 0 0
protective 0 2 2 1

Submitter to submitter summary #

Total submitters: 11
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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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 0 0 2 1 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 2 1 3
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 0 2 0 2
OMIM 0 0 0 0 0 0 1 1
Athena Diagnostics Inc 0 0 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 1 0 1
GeneDx 0 0 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324
NM_005912.2(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) rs52820871

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