ClinVar Miner

Variants from Elsea Laboratory,Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Elsea Laboratory,Baylor College of Medicine: Collection method of the submission from Elsea Laboratory,Baylor College of Medicine:
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
80 24 0 12 14 1 15 35

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
Elsea Laboratory,Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign drug response protective other
pathogenic 0 8 5 1 2 1 1 1
likely pathogenic 2 0 4 2 1 0 0 0
uncertain significance 5 2 0 8 8 0 0 0
likely benign 0 0 2 0 2 0 0 0

Submitter to submitter summary #

Total submitters: 64
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 19 0 4 12 0 4 20
Illumina Clinical Services Laboratory,Illumina 0 7 0 2 6 0 5 13
Natera, Inc. 0 4 0 1 6 0 1 8
Counsyl 0 2 0 2 0 0 2 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 2 0 0 2 4
OMIM 0 10 0 1 0 0 2 3
Baylor Genetics 0 11 0 1 0 0 2 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 3 3
GeneDx 0 1 0 1 0 0 3 3
Integrated Genetics/Laboratory Corporation of America 0 4 0 1 0 0 2 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 1 3 3
Research and Development, ARUP Laboratories 0 0 0 0 0 0 3 3
Athena Diagnostics Inc 0 1 0 0 0 0 2 2
Ambry Genetics 0 0 0 0 0 0 2 2
Mendelics 0 2 0 0 0 0 2 2
GeneReviews 0 2 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 6 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 1 0 1 0 0 0 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 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
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Myriad Women's Health, Inc. 0 3 0 0 0 0 1 1
Medical Genetics Laboratory,Tarbiat Modares University 0 0 0 1 0 0 0 1
New York Genome Center 0 0 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
LifeCell International Pvt. Ltd 0 0 0 0 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000170.3(GLDC):c.2683A>G rs141152043
NM_000170.3(GLDC):c.319A>G rs138454333
NM_000170.3(GLDC):c.52G>T rs535143891
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001698.3(AUH):c.381A>G rs146227896
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_003849.4(SUCLG1):c.202-4T>C rs141973418
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_016327.3(UPB1):c.105-2A>G rs138081800
NM_016327.3(UPB1):c.917-1G>A rs143493067
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) rs767568897
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
Single allele

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