ClinVar Miner

Variants studied for tyrosinemia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
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
170 180 293 844 73 1 11 1440

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
FAH 101 116 141 323 40 1 11 640
TAT 28 37 71 221 8 0 0 346
HPD 29 9 55 193 18 0 0 291
LOC111413029, TAT 3 10 10 54 0 0 0 76
HPD, LOC126861662 4 1 5 29 3 0 0 40
FAH, LOC112272621 5 6 3 24 2 0 0 36
HPD, LOC130009013 0 0 6 0 0 0 0 6
FAH, LOC130057734 0 0 1 0 2 0 0 3
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 1
GCDH 0 1 0 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 143 44 147 830 50 1 0 1215
Illumina Laboratory Services, Illumina 5 1 103 10 30 0 0 149
Baylor Genetics 36 76 3 0 0 0 0 115
Natera, Inc. 13 5 29 19 15 0 0 81
Counsyl 4 49 20 1 0 0 0 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 14 0 0 0 0 0 32
Genome-Nilou Lab 1 1 2 1 19 0 0 24
Myriad Genetics, Inc. 5 18 0 0 0 0 0 23
Fulgent Genetics, Fulgent Genetics 7 4 6 4 1 0 0 22
OMIM 20 0 0 0 0 0 0 20
GeneReviews 0 0 0 0 0 0 11 11
Revvity Omics, Revvity 5 1 4 0 0 0 0 10
Mendelics 3 2 2 0 1 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 3 2 0 0 0 0 8
3billion 3 1 3 0 0 0 0 7
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 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
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 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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