ClinVar Miner

Variants studied for Primary hyperoxaluria, 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 total
183 48 104 19 29 314

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AGXT 182 48 104 19 29 313
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LOC100130449, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC150935, LOC285191, LOC401040, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Biochemistry Laboratory,Health Services Laboratory 180 0 55 0 0 235
Illumina Clinical Services Laboratory,Illumina 1 0 37 10 13 61
Counsyl 9 37 10 2 1 59
Natera, Inc. 7 0 10 6 9 32
Nilou-Genome Lab 0 0 0 0 15 15
OMIM 12 0 0 0 2 14
GeneReviews 11 0 0 0 2 13
Myriad Women's Health, Inc. 3 6 0 0 0 9
Mendelics 2 1 0 2 1 6
Baylor Genetics 3 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 4 0 1 0 0 5
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
Genomics England Pilot Project,Genomics England 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
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
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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