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 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 46 3 13 4 4 9 23

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 association drug response risk factor
pathogenic 3 10 5 2 1 1 1 3
likely pathogenic 4 0 2 1 1 1 1 0
uncertain significance 1 4 0 4 2 1 1 0
likely benign 1 1 1 0 1 1 1 0

Submitter to submitter summary #

Total submitters: 106
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 54 0 4 1 0 4 8
OMIM 0 5 0 1 0 3 0 4
Invitae 0 12 0 2 3 0 1 4
GeneReviews 0 1 3 1 0 0 1 4
Baylor Genetics 0 1 0 1 0 0 2 2
Athena Diagnostics Inc 0 2 0 1 2 0 1 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 7 0 1 0 0 1 2
Ambry Genetics 0 8 0 1 0 0 1 2
Counsyl 0 4 0 2 1 0 1 2
Mendelics 0 2 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 9 0 1 2 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 5 0 1 1 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 1 1 0 1 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 1 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 1 0 1 1
PreventionGenetics,PreventionGenetics 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 1 0 1 1
PXE International 0 0 0 1 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 1 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 1 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 1 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 1 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 0 1 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 1 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 1 1 1 1
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 0 1 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
Color 0 1 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 1 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 2 0 1 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 1 1
Robarts Research Institute,Western University 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 1 0 1 1 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 160 0 0 1 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 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
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 1 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 1 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 1 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 1 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002880.3(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006265.2(RAD21):c.1349G>A (p.Arg450His) rs1051321465
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_021150.4(GRIP1):c.1600A>C (p.Ile534Leu) rs189438534
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_130837.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
Single allele

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