ClinVar Miner

Variants from Center for Statistical Genetics, Columbia University with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Statistical Genetics, Columbia University: Collection method of the submission from Center for Statistical Genetics, Columbia University:
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
100 17 0 7 0 0 5 10

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, Columbia University pathogenic likely pathogenic uncertain significance
pathogenic 0 7 5
uncertain significance 1 1 0

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
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
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Center for Statistical Genetics, Columbia University 125 1 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
Single allele

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