ClinVar Miner

Variants studied for Tyrosinemia type I

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 other not provided total
109 131 174 364 43 1 11 728

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
FAH 104 125 168 340 39 1 11 687
FAH, LOC112272621 5 6 4 24 2 0 0 37
FAH, LOC130057734 0 0 1 0 2 0 0 3
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 91 30 77 357 23 1 0 579
Baylor Genetics 31 56 2 0 0 0 0 89
Natera, Inc. 13 5 29 19 14 0 0 80
Fulgent Genetics, Fulgent Genetics 16 27 32 1 0 0 0 76
Illumina Laboratory Services, Illumina 5 1 42 5 18 0 0 71
Counsyl 3 36 12 1 0 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 9 0 0 0 0 0 26
Genome-Nilou Lab 1 1 2 1 17 0 0 22
Myriad Genetics, Inc. 5 9 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 3 3 0 0 0 0 9
Revvity Omics, Revvity 4 1 3 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 3 1 0 0 0 0 8
Mendelics 3 1 2 0 1 0 0 7
3billion, Medical Genetics 2 1 3 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Department of Medical Genetics and Prenatal Diagnosis, Taizhou People's Hospital 1 0 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 0 1

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