ClinVar Miner

Variants from Clinical Cancer Genetics and Family Consultants,Athens Medical Center with conflicting interpretations

Location: Greece — Primary collection method: clinical testing
Minimum review status of the submission from Clinical Cancer Genetics and Family Consultants,Athens Medical Center: Collection method of the submission from Clinical Cancer Genetics and Family Consultants,Athens Medical Center:
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
0 2 0 1 0 0 3 3

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
Clinical Cancer Genetics and Family Consultants,Athens Medical Center likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 1 1
likely pathogenic 0 2 0 0

Submitter to submitter summary #

Total submitters: 24
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 0 0 0 0 0 3 3
Ambry Genetics 0 1 0 0 0 0 3 3
Invitae 0 1 0 0 0 0 3 3
Counsyl 0 0 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 2 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 2 2
GeneKor MSA 0 1 0 0 0 0 2 2
Color 0 1 0 0 0 0 2 2
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
PreventionGenetics 0 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 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
True Health Diagnostics 0 0 0 0 0 0 1 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903

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