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
184 46 84 43 25 302

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 41 65 4 4 256
not provided 12 1 7 27 12 56
Primary hyperoxaluria 5 1 15 13 2 36
not specified 0 0 1 2 15 18
Nephrocalcinosis; Nephrolithiasis 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 23
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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
Invitae 10 0 0 25 8 43
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,PreventionGenetics 0 0 0 2 10 12
Integrated Genetics/Laboratory Corporation of America 5 1 2 2 1 11
GeneDx 1 0 3 0 2 6
Mendelics 2 1 0 2 1 6
Baylor Genetics 3 2 0 0 0 5
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
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
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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