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
350 85 0 38 5 1 17 54

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 34 12 2 1 1 1
likely pathogenic 4 0 1 0 0 0 0
uncertain significance 2 2 0 5 1 0 0

Submitter to submitter summary #

Total submitters: 67
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 33 0 6 1 0 5 11
Labcorp Genetics (formerly Invitae), Labcorp 0 32 0 3 2 0 6 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 14 0 3 3 0 0 6
Institute of Tissue Medicine and Pathology, University of Bern 0 0 0 6 0 0 0 6
PreventionGenetics, part of Exact Sciences 0 8 0 2 1 0 1 4
CeGaT Center for Human Genetics Tuebingen 0 12 0 1 0 0 3 4
Genetic Services Laboratory, University of Chicago 0 9 0 2 1 0 0 3
Revvity Omics, Revvity 0 2 0 2 0 0 1 3
Ambry Genetics 0 8 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 2 0 1 0 1 2 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 9 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 6 0 1 0 0 1 2
Myriad Genetics, Inc. 0 2 0 1 1 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 1 0 0 1 2
OMIM 0 26 0 1 0 0 0 1
Baylor Genetics 0 13 0 1 0 0 0 1
Athena Diagnostics 0 7 0 1 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 0 0 0 1 1
MGZ Medical Genetics Center 0 6 0 0 0 0 1 1
Counsyl 0 4 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 1 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 12 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 3 0 1 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 0 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 2 0 1 0 0 1 1
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 1 0 0 0 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 2 0 1 0 0 1 1
National Newborn Screening Laboratory, Hospital Nacional de Niños 0 0 0 1 0 0 0 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 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 2 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
Solve-RD Consortium 0 0 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 3 0 0 0 0 1 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met) rs202188213 0.00127
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
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_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_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_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000216.4(ANOS1):c.515G>A (p.Cys172Tyr) rs1930749813
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
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.1108G>T (p.Val370Phe) rs2135845768
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001083962.2(TCF4):c.415del (p.Leu139fs) rs587784463
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_001615.4(ACTG2):c.588G>C (p.Glu196Asp) rs140943831
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2772C>A (p.Tyr924Ter) rs764404042
NM_004444.5(EPHB4):c.805C>T (p.Arg269Ter) rs1049858988
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
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
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) rs587776833
Single allele

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