ClinVar Miner

Variants from Medical Research Institute,Tokyo Medical and Dental University with conflicting interpretations

Location: Japan — Primary collection method: research
Minimum review status of the submission from Medical Research Institute,Tokyo Medical and Dental University: Collection method of the submission from Medical Research Institute,Tokyo Medical and Dental 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
115 5 0 4 0 1 6 9

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
Medical Research Institute,Tokyo Medical and Dental University pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 1 0 0 0 0 0
likely pathogenic 3 0 4 1 1 1 1
uncertain significance 2 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 16
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
GeneDx 0 2 0 3 0 0 2 5
Ambry Genetics 0 1 0 2 0 0 2 4
Invitae 0 2 0 2 0 0 2 4
OMIM 0 1 0 2 0 1 1 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 0 3 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 2 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Blueprint Genetics, 0 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_001035.2(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001148.4(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001160160.1(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) rs57077886

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