ClinVar Miner

Variants studied for Tyrosinemia type I

Coded as:
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 other not provided total
106 123 145 347 43 1 11 678

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 101 117 140 323 39 1 11 638
FAH, LOC112272621 5 6 3 24 2 0 0 36
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 89 28 69 340 23 1 0 550
Baylor Genetics 31 56 2 0 0 0 0 89
Natera, Inc. 13 5 29 19 14 0 0 80
Illumina Laboratory Services, Illumina 5 1 42 5 18 0 0 71
Counsyl 3 36 12 1 0 0 0 52
Genome-Nilou Lab 1 1 2 1 17 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 5 0 0 0 0 0 21
Fulgent Genetics, Fulgent Genetics 7 3 3 1 0 0 0 14
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
Revvity Omics, Revvity 4 1 3 0 0 0 0 8
Mendelics 3 1 2 0 1 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 3 1 0 0 0 0 7
3billion 2 1 3 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 0 5
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
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

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