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
102 110 145 347 43 1 11 666

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 98 104 140 323 39 1 11 626
FAH, LOC112272621 4 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 86 27 69 340 23 1 0 546
Natera, Inc. 13 5 29 19 14 0 0 80
Baylor Genetics 29 43 2 0 0 0 0 74
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 4 0 0 0 0 0 20
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
3billion 2 1 3 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 2 1 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
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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