ClinVar Miner

Variants studied for Primary hyperoxaluria, type II

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
51 98 64 31 23 4 220

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
GRHPR 50 98 64 31 23 4 219
FKBP10 1 0 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 not provided total
Clinical Biochemistry Laboratory, Health Services Laboratory 32 13 14 1 1 0 61
Natera, Inc. 10 3 8 18 13 0 52
Counsyl 2 35 12 2 0 0 51
Baylor Genetics 15 32 1 0 0 0 48
Illumina Laboratory Services, Illumina 1 0 27 4 6 0 38
Fulgent Genetics, Fulgent Genetics 7 10 6 9 0 0 32
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 10 3 1 0 0 0 14
Myriad Genetics, Inc. 1 11 0 0 0 0 12
Genome-Nilou Lab 1 0 0 2 8 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 4 0 0 0 0 9
Revvity Omics, Revvity 4 2 2 0 0 0 8
OMIM 5 0 0 0 0 0 5
GeneReviews 0 0 0 0 1 3 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Thalassemia Center, San Luigi University Hospital 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 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
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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