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 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
92 61 0 31 3 1 22 51

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 benign risk factor
pathogenic 0 20 5 1 1 0
likely pathogenic 11 0 4 0 0 1
uncertain significance 7 8 0 3 0 0

Submitter to submitter summary #

Total submitters: 37
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 57 0 7 1 0 6 14
Invitae 0 63 0 5 1 0 8 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 51 0 7 1 0 5 13
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 2 0 8 0 0 1 9
OMIM 0 19 0 3 0 1 4 7
Blueprint Genetics, 0 18 0 3 0 0 3 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 5 0 0 1 6
Integrated Genetics/Laboratory Corporation of America 0 5 0 2 0 0 3 5
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 13 0 2 0 0 2 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 3 0 0 1 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 20 0 3 0 0 1 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 7 0 1 0 0 3 4
Athena Diagnostics Inc 0 1 0 2 0 0 1 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 5 0 1 0 0 2 3
Center for Medical Genetics Ghent,University of Ghent 0 5 0 3 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 10 0 2 0 0 1 3
Color 0 4 0 0 1 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 1 0 0 1 2
Ambry Genetics 0 35 0 2 0 0 0 2
Fulgent Genetics 0 5 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 6 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 1 0 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 0 0 1 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
RettBASE 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 8 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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
Phosphorus, Inc. 0 4 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 8 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1404delG (p.Gln469Serfs) rs886037900
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2610delC (p.Ser871Alafs) rs397515979
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.852-2A>G
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000257.3(MYH7):c.1128C>A (p.Asp376Glu) rs2231126
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
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.3169G>A (p.Gly1057Ser) rs397516179
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) rs367785431
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_003239.4(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003280.2(TNNC1):c.430A>G (p.Asn144Asp) rs730881061
NM_003476.4(CSRP3):c.131T>C (p.Leu44Pro) rs104894205
NM_005159.4(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_014000.2(VCL):c.829C>A (p.Leu277Met) rs71579353
NM_016203.3(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_018486.2(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459

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