ClinVar Miner

Variants from Genome Sciences Centre,British Columbia Cancer Agency with conflicting interpretations

Location: Canada — Primary collection method: research
Minimum review status of the submission from Genome Sciences Centre,British Columbia Cancer Agency: Collection method of the submission from Genome Sciences Centre,British Columbia Cancer Agency:
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
41 6 1 10 0 0 4 13

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
Genome Sciences Centre,British Columbia Cancer Agency pathogenic likely pathogenic uncertain significance likely benign
pathogenic 1 2 1 0
likely pathogenic 8 0 1 1
uncertain significance 1 1 0 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
Ambry Genetics 0 5 0 6 0 0 0 6
GeneDx 0 5 0 3 0 0 2 5
Invitae 0 4 0 5 0 0 0 5
Database of Curated Mutations (DoCM) 0 4 0 2 0 0 1 3
OMIM 0 3 0 2 0 0 0 2
GeneReviews 0 0 1 1 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Counsyl 0 3 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 1 0 0 0 1
Fulgent Genetics 0 3 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Department of Research and Development,Institute Hermes Pardini 0 0 0 1 0 0 0 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000215.3(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) rs1555535032
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_033360.3(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_130799.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_130799.2(MEN1):c.783+1G>A rs794728652
Single allele

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