ClinVar Miner

Variants from Dept. of Medical Genetics, Telemark Hospital Trust with conflicting interpretations

Location: Norway — Primary collection method: research
Minimum review status of the submission from Dept. of Medical Genetics, Telemark Hospital Trust: Collection method of the submission from Dept. of Medical Genetics, Telemark Hospital Trust:
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
16 6 1 1 1 1 5 8

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
Dept. of Medical Genetics, Telemark Hospital Trust pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 1 0 1 1 0
likely pathogenic 0 0 3 1 0 0
uncertain significance 1 0 0 1 0 1

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
Invitae 0 7 0 0 1 0 3 4
OMIM 0 2 0 0 0 1 2 3
GeneDx 0 3 0 0 1 0 2 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
Ambry Genetics 0 1 0 0 0 0 1 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 0 0 0 1 1
GeneReviews 0 0 1 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 1
Color 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000166.5(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_001135041.2(DCTN1):c.1951C>T (p.Arg651Trp) rs121909344
NM_001164731.1(REEP1):c.524A>G (p.Ter175Trp) rs587781248
NM_014629.3(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963

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