ClinVar Miner

Variants in gene LZTR1

Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
56 56 206 102 83 1 3 449

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 37 40 138 71 55 0 1 332
not specified 0 0 47 34 51 0 0 125
Noonan syndrome 10 9 2 15 0 0 0 1 26
Noonan syndrome 2 11 3 7 0 0 0 0 20
Schwannomatosis 2 10 3 4 0 0 0 0 16
none provided 1 0 2 3 4 0 0 10
Inborn genetic diseases 2 1 3 0 0 0 0 6
Rasopathy 1 2 1 0 0 0 0 4
Schwannomatosis 2; Noonan syndrome 10 2 1 1 0 0 0 0 4
Schwannomatosis 0 3 0 0 0 0 0 3
Bladder exstrophy 0 0 2 0 0 0 0 2
Noonan syndrome 2; Noonan syndrome 10 0 1 1 0 0 0 0 2
Short stature 1 1 0 0 0 0 0 2
Autism spectrum disorder 0 0 0 0 0 1 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 0 1
LZTR1-Related Disorder 0 0 0 0 0 0 1 1
Non-immune hydrops fetalis 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 30 8 89 45 22 0 0 194
GeneDx 7 23 38 40 39 0 0 147
Integrated Genetics/Laboratory Corporation of America 1 5 43 18 55 0 0 122
CeGaT Praxis fuer Humangenetik Tuebingen 5 6 13 2 0 0 0 26
Baylor Genetics 5 1 13 0 0 0 0 19
OMIM 14 0 0 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 4 5 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 4 0 0 6
Ambry Genetics 2 1 3 0 0 0 0 6
Blueprint Genetics 0 2 4 0 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 4 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 2 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 0 3
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 2 0 0 0 0 3
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1

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