ClinVar Miner

Variants from Center for Statistical Genetics,Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Statistical Genetics,Baylor College of Medicine: Collection method of the submission from Center for Statistical Genetics,Baylor College of Medicine:
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
55 4 1 2 1 1 4 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 Statistical Genetics,Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 2 3 0 0 1
uncertain significance 0 1 0 1 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 1 0 1 2
OMIM 0 2 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 1 0 0 1
Counsyl 0 2 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 0 1 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000260.3(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_016239.3(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.908G>A (p.Arg303His) rs371777049

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