ClinVar Miner

Variants studied for primary hyperoxaluria

Included ClinVar conditions (4):
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 not provided total
329 328 323 90 70 19 935

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGXT 227 147 129 40 32 13 465
HOGA1 47 78 125 19 14 2 237
GRHPR 53 103 65 31 23 4 226
HOGA1, LOC130004476 0 0 3 0 1 0 4
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LINC02991, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC122889014, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 0 1
AGXT, MAB21L4 1 0 0 0 0 0 1
MOCOS 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Clinical Biochemistry Laboratory, Health Services Laboratory 266 71 88 5 3 0 433
Illumina Laboratory Services, Illumina 6 2 125 18 31 0 182
Natera, Inc. 39 8 51 40 31 0 169
Fulgent Genetics, Fulgent Genetics 32 31 37 35 2 0 137
Counsyl 12 83 36 4 1 0 136
Baylor Genetics 61 66 1 0 0 0 128
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 21 27 13 0 0 0 61
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 35 26 0 0 0 0 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 43 16 0 0 0 0 59
Myriad Genetics, Inc. 6 27 3 0 0 0 36
Genome-Nilou Lab 1 0 0 4 26 0 31
Revvity Omics, Revvity 18 10 2 0 0 0 30
OMIM 25 0 0 0 2 0 27
Thalassemia Center, San Luigi University Hospital 16 4 1 0 0 0 21
GeneReviews 0 0 0 0 1 18 19
Neuberg Centre For Genomic Medicine, NCGM 7 4 4 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 1 0 0 0 14
Mendelics 2 1 0 2 2 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 4 0 0 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 3 0 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 1 0 0 0 0 0 1

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