ClinVar Miner

Variants studied for Tyrosinemia type I

Coded as:
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 total
24 41 15 3 8 1 82

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
FAH 24 41 15 3 8 1 82

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 7 37 12 1 0 0 57
Invitae 9 5 2 1 6 1 24
OMIM 10 0 0 0 0 0 10
GeneReviews 9 0 0 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 6 1 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 5
Illumina Clinical Services Laboratory,Illumina 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1

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