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
116 21 0 9 0 0 7 13

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 likely benign
pathogenic 0 9 7 1
uncertain significance 1 1 0 0

Submitter to submitter summary #

Total submitters: 15
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
Invitae 0 6 0 2 0 0 2 4
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1 2
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 1 1
GeneDx 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 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 148 1 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Raymond Lab, University of Cambridge 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
Single allele

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