ClinVar Miner

Variants from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital: Collection method of the submission from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital:
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
325 56 0 29 3 1 13 41

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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 27 9 2 1 1 1
likely pathogenic 2 0 1 0 0 0 0
uncertain significance 1 2 0 3 1 0 0

Submitter to submitter summary #

Total submitters: 58
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
Invitae 0 27 0 2 2 0 5 9
GeneDx 0 24 0 5 1 0 3 8
Ambry Genetics 0 6 0 3 0 0 1 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 3 1 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 9 0 1 0 0 3 4
Revvity Omics, Revvity 0 2 0 2 0 0 1 3
PreventionGenetics, part of Exact Sciences 0 4 0 0 1 0 2 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 10 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 6 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 1 0 1 0 1 2 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 2 0 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 1 0 0 1 2
Baylor Genetics 0 4 0 1 0 0 0 1
Athena Diagnostics Inc 0 7 0 1 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 1 1
Counsyl 0 2 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 2 0 1 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Care4Rare-SOLVE, CHEO 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 1 0 0 1 1
MAGI's Lab - Research, MAGI Group 0 9 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 0 1 0 0 0 1
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 0 8 0 0 0 0 1 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met) rs202188213 0.00140
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn) rs139165727 0.00006
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849 0.00001
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn) rs1423560123
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000216.4(ANOS1):c.515G>A (p.Cys172Tyr) rs1930749813
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys) rs1825682922
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) rs2108429509
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
Single allele

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