ClinVar Miner

Variants from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System with conflicting interpretations

Location: United States — Primary collection method: provider interpretation
Minimum review status of the submission from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System: Collection method of the submission from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System:
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
123 19 1 5 1 2 6 10

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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 1 4 3 1 1 1 1 1 1
likely pathogenic 2 0 1 1 1 1 1 0 1
uncertain significance 1 4 0 1 1 1 1 0 1
likely benign 1 1 1 0 1 1 1 0 1

Submitter to submitter summary #

Total submitters: 57
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
GeneDx 0 4 0 1 1 0 3 3
Invitae 0 5 0 2 1 0 2 3
Illumina Clinical Services Laboratory,Illumina 0 5 0 0 1 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 2 0 0 1 2
OMIM 0 3 0 0 0 1 0 1
Baylor Genetics 0 2 0 1 0 0 1 1
Athena Diagnostics Inc 0 0 0 1 1 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Counsyl 0 3 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 1 1 1 1
GeneReviews 0 2 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 1 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 1 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 1 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 1 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 1 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 1 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 1 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 1 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 151 0 0 1 1 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 1 1
New York Genome Center 0 1 0 1 1 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Molecular Genetics Laboratory Heidelberg, Heidelberg University 0 0 0 0 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 1 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001354689.3(RAF1):c.1931C>G (p.Ser644Cys) rs1057524239
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
Single allele

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