ClinVar Miner

Variants in gene LZTR1

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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 not provided total
23 28 60 42 42 2 189

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 8 23 46 27 38 1 141
not specified 0 0 3 15 7 0 25
Noonan syndrome 2 9 0 5 0 0 0 13
Schwannomatosis 2 8 0 2 0 0 0 10
Noonan syndrome 10 3 2 3 0 0 0 8
Schwannomatosis 2; Noonan syndrome 10 2 1 1 0 0 0 4
Inborn genetic diseases 0 2 1 0 0 0 3
Bladder exstrophy 0 0 2 0 0 0 2
Short stature 1 1 0 0 0 0 2
LZTR1-Related Disorder 0 0 0 0 0 1 1
Rasopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 7 20 38 40 39 0 144
OMIM 14 0 0 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 10 0 10
Blueprint Genetics 0 2 4 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 1 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 2 0 0 0 4
Ambry Genetics 0 2 1 0 0 0 3
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1

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