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 not provided total
223 137 127 39 32 13 453

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 not provided total
AGXT 222 137 127 39 32 13 452
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

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Clinical Biochemistry Laboratory, Health Services Laboratory 197 24 59 4 2 0 286
Baylor Genetics 46 34 0 0 0 0 80
Fulgent Genetics, Fulgent Genetics 20 14 15 20 2 0 71
Natera, Inc. 22 2 17 14 13 0 68
Illumina Laboratory Services, Illumina 1 0 37 10 13 0 61
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 4 3 0 0 0 0 7
Mendelics 2 1 0 2 1 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 4 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 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
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

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