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
182 43 84 18 19 278

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 38 65 2 3 255
Primary hyperoxaluria 5 1 15 13 2 36
not specified 0 0 1 2 15 18
not provided 3 1 7 2 2 14
Nephrocalcinosis; Nephrolithiasis 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 20
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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
Counsyl 12 37 10 2 1 62
Illumina Clinical Services Laboratory,Illumina 1 0 17 13 2 33
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 0 0 0 2 10 12
Integrated Genetics/Laboratory Corporation of America 5 1 2 2 1 11
GeneDx 1 0 3 0 0 4
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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 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
SIB Swiss Institute of Bioinformatics 0 1 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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