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:

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
114 56 0 33 18 1 25 74

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 protective other
pathogenic 0 23 5 1 1 1 1
likely pathogenic 8 0 14 3 3 0 0
uncertain significance 5 4 0 12 9 0 0
likely benign 0 0 2 0 2 0 0

Submitter to submitter summary #

Total submitters: 99
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
Labcorp Genetics (formerly Invitae), Labcorp 0 47 0 10 15 0 15 39
Illumina Laboratory Services, Illumina 0 10 0 3 7 0 5 14
Natera, Inc. 0 9 0 3 8 0 2 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 5 1 0 2 8
Fulgent Genetics, Fulgent Genetics 0 20 0 3 2 0 2 7
3billion 0 11 0 0 0 0 6 6
Revvity Omics, Revvity 0 12 0 3 0 0 4 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 14 0 4 0 0 2 6
Genome-Nilou Lab 0 7 0 2 1 0 2 5
OMIM 0 19 0 2 0 0 3 5
Baylor Genetics 0 14 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 1 0 0 3 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 1 0 0 3 4
Mendelics 0 4 0 0 0 0 4 4
New York Genome Center 0 5 0 1 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 0 0 1 0 2 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 0 3 3
Counsyl 0 2 0 2 0 0 1 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 1 1 0 1 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 2 3
Eurofins Ntd Llc (ga) 0 0 0 1 0 1 3 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 0 1 0 0 2 3
GeneDx 0 1 0 1 0 0 3 3
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 2 3
MGZ Medical Genetics Center 0 3 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 2 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 2 3
Athena Diagnostics 0 0 0 1 0 0 2 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 2 2
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 2 2
Department of Human Genetics, Hannover Medical School 0 1 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 2 2
Lifecell International Pvt. Ltd 0 0 0 1 0 0 1 2
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 9 0 0 0 0 2 2
Ambry Genetics 0 0 0 1 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 0 0 0 1 1
Caldovic Lab, Children's National Health System 0 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Dasa 0 2 0 0 0 0 1 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 0 0 0 1 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 0 0 0 0 1 1
Laboratory of Metabolic Disorders, Peking University First Hospital 0 2 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 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
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Genetics Laboratory, Tarbiat Modares University 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 4 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 3 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1 1
Solve-RD Consortium 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 2 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01260
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00739
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00647
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00198
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter) rs139044238 0.00088
NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) rs138872001 0.00084
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00059
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00035
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00021
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00006
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00005
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg) rs1285477390 0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NC_000023.11:g.38352591C>A rs749748052 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg) rs1041467895 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg) rs1380589911 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) rs767568897 0.00001
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) rs182650447
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala) rs1759856050
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro) rs2532877266
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys) rs759155182
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp) rs769411080
NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys) rs2042442594
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala) rs146511220
NM_003849.4(SUCLG1):c.242A>C (p.Lys81Thr) rs564792232
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) rs724159990
NM_144639.3(UROC1):c.855G>A (p.Trp285Ter) rs781621925
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
Single allele

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