ClinVar Miner

Variants from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals: Collection method of the submission from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals:
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
101 34 2 27 1 0 8 34

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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 19 5 0 0
likely pathogenic 7 0 3 0 0
uncertain significance 0 0 0 1 1
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 26
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 35 0 5 0 0 0 5
Ambry Genetics 0 9 0 3 0 0 2 5
Counsyl 0 3 0 3 0 0 0 3
Invitae 0 17 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 3 0 2 1 0 0 3
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 3 0 0 0 3
OMIM 0 26 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 6 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 0 1 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 0 1 0 1 2
GeneReviews 0 4 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 3 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 5 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000553.5(WRN):c.1161G>A (p.Met387Ile) rs1800391
NM_000553.5(WRN):c.1165del (p.Arg389Glufs) rs878854131
NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys) rs879255597
NM_001163436.2(TBCK):c.2060-2A>G rs62321379
NM_001170629.1(CHD8):c.6103C>T (p.Arg2035Ter) rs1131691627
NM_001244008.1(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.1(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001429.3(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_002074.4(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_006009.3(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532Argfs) rs869312704
NM_013275.5(ANKRD11):c.2175_2178delCAAA (p.Asn725Lysfs) rs886039734
NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014927.3(CNKSR2):c.1282C>T (p.Arg428Ter) rs1064794022
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_017890.4(VPS13B):c.6002delC (p.Pro2001Leufs) rs755125969
NM_017890.4(VPS13B):c.901_904delACTT (p.Thr301Valfs) rs759536357
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_052867.3(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_175629.2(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678

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