ClinVar Miner

Variants in gene GRHPR

Minimum submission review status: Collection method:
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Gene type:
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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
99 117 152 285 38 4 596

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 66 15 37 274 33 0 417
Primary hyperoxaluria, type II 54 109 101 31 23 4 264
Nephrolithiasis/nephrocalcinosis 0 0 40 20 0 0 60
GRHPR-related disorder 1 1 1 4 2 0 9
not specified 0 0 5 0 4 0 9
Primary hyperoxaluria 3 0 0 0 0 0 3
Nephrocalcinosis; Nephrolithiasis 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 13 26 267 17 0 389
Fulgent Genetics, Fulgent Genetics 10 21 45 9 0 0 85
Clinical Biochemistry Laboratory, Health Services Laboratory 32 13 14 1 1 0 61
Ambry Genetics 0 0 40 20 0 0 60
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
GeneDx 4 1 5 4 20 0 34
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 15 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 5 0 0 0 17
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 10 3 1 0 0 0 14
PreventionGenetics, part of Exact Sciences 1 1 1 4 6 0 13
Myriad Genetics, Inc. 1 11 0 0 0 0 12
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 3 9 0 0 0 0 12
Genome-Nilou Lab 1 0 0 2 8 0 11
Revvity Omics, Revvity 4 2 2 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
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
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
Thalassemia Center, San Luigi University Hospital 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 2 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
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
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 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
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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