ClinVar Miner

Variants in gene AGXT

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 total
190 54 117 86 28 386

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary hyperoxaluria, type I 182 48 104 19 19 307
not provided 47 3 18 73 12 150
Primary hyperoxaluria 14 3 1 1 0 19
not specified 0 0 1 3 16 18
Nephrocalcinosis; Nephrolithiasis 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Biochemistry Laboratory,Health Services Laboratory 179 0 55 0 0 234
Invitae 47 2 11 72 8 140
Illumina Clinical Services Laboratory,Illumina 1 0 38 11 13 63
Counsyl 9 37 10 2 1 59
Natera, Inc. 7 0 10 6 9 32
Integrated Genetics/Laboratory Corporation of America 12 3 2 2 2 21
OMIM 12 0 0 0 2 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 0 8 14
GeneReviews 11 0 0 0 2 13
PreventionGenetics, PreventionGenetics 0 0 0 2 10 12
Myriad Women's Health, Inc. 3 6 0 0 0 9
Baylor Genetics 4 2 0 0 0 6
GeneDx 1 0 3 0 2 6
Mendelics 2 1 0 2 1 6
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 4
Yale Center for Mendelian Genomics,Yale University 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1

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