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 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
52 6 1 2 1 1 7 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 benign risk factor
pathogenic 1 2 5 0 1
uncertain significance 1 1 0 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 3 4
OMIM 0 4 0 0 0 1 2 3
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
Invitae 0 2 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 0 0 1 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.