ClinVar Miner

Variants from Center for Human Genetics,University of Leuven with conflicting interpretations

Location: Belgium — Primary collection method: clinical testing
Minimum review status of the submission from Center for Human Genetics,University of Leuven: Collection method of the submission from Center for Human Genetics,University of Leuven:
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
126 55 0 17 1 0 10 28

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 Human Genetics,University of Leuven pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 8 1 0
likely pathogenic 9 0 3 0
uncertain significance 1 6 0 1

Submitter to submitter summary #

Total submitters: 18
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 48 0 6 1 0 7 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 28 0 6 0 0 1 7
OMIM 0 6 0 2 0 0 0 2
Baylor Genetics 0 0 0 2 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 9 0 0 0 0 2 2
Genetics and Genomics Program,Sidra Medicine 0 1 0 1 0 0 1 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 1 0 0 0 1
RettBASE 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 7 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) rs1564664312
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459

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