ClinVar Miner

Variants in gene FAH

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
58 63 120 96 37 1 314

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Tyrosinemia type I 57 61 88 77 26 1 263
not provided 10 2 42 10 2 1 66
not specified 0 0 0 26 22 0 47
Hypertyrosinemia 0 0 1 2 0 0 3
Fumarylacetoacetase pseudodeficiency 1 0 0 0 0 0 1
Tyrosinemia 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 37 15 19 72 13 1 157
Illumina Clinical Services Laboratory,Illumina 3 1 43 7 18 0 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 39 5 6 1 58
Counsyl 3 37 12 1 0 0 53
Natera, Inc. 7 0 21 11 6 0 45
GeneDx 6 1 0 24 13 0 44
Baylor Genetics 16 3 1 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 12 1 0 0 3 0 16
PreventionGenetics, PreventionGenetics 0 0 0 0 12 0 12
OMIM 11 0 0 0 0 0 11
Myriad Women's Health, Inc. 5 6 0 0 0 0 11
GeneReviews 9 0 0 0 0 0 9
Mendelics 1 1 2 0 1 0 5
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 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
Lineagen, Inc 0 0 1 0 0 0 1
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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