ClinVar Miner

Variants studied for Primary hyperoxaluria, type I

Coded as:
Minimum submission review status: Collection method:
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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
229 151 171 40 32 13 509

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGXT 227 151 171 40 32 13 507
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, 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

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Clinical Biochemistry Laboratory, Health Services Laboratory 196 24 60 4 2 0 286
Fulgent Genetics, Fulgent Genetics 34 30 63 21 2 0 150
Baylor Genetics 46 34 0 0 0 0 80
Natera, Inc. 22 2 17 14 13 0 68
Illumina Laboratory Services, Illumina 1 0 35 10 13 0 59
Counsyl 9 36 10 2 1 0 58
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 10 14 5 0 0 0 29
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 19 8 0 0 0 0 27
Revvity Omics, Revvity 14 8 0 0 0 0 22
Myriad Genetics, Inc. 3 16 1 0 0 0 20
Genome-Nilou Lab 0 0 0 0 15 0 15
Thalassemia Center, San Luigi University Hospital 12 2 1 0 0 0 15
OMIM 12 0 0 0 2 0 14
GeneReviews 0 0 0 0 0 13 13
Neuberg Centre For Genomic Medicine, NCGM 7 3 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 1 0 0 0 7
Mendelics 2 1 0 2 1 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
3billion 2 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 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
Daryl Scott Lab, Baylor College of Medicine 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
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
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 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
Department of Genetics, Suzhou Beikang Medical Laboratory 1 0 0 0 0 0 1

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