ClinVar Miner

Variants studied for impaired renal function disease

Included ClinVar conditions (7):
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
66 46 148 57 92 3 384

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AQP2, AQP5 15 10 61 10 29 1 120
AVPR2 32 24 20 15 26 2 111
SLC34A1 6 5 42 20 22 0 91
AQP2 9 6 16 8 6 0 40
F12, SLC34A1 0 0 0 1 8 0 8
NHERF1 2 1 6 1 0 0 8
NHERF1, SLC9A3R1 1 0 3 2 1 0 5
SLC34A3 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
Illumina Laboratory Services, Illumina 0 1 98 22 81 0 202
Fulgent Genetics, Fulgent Genetics 3 13 28 30 3 0 77
OMIM 43 0 0 0 0 0 43
Natera, Inc. 2 3 6 10 4 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 17 0 1 0 2 24
Genome-Nilou Lab 0 0 1 0 18 0 19
Baylor Genetics 2 2 3 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 0 0 0 7
Mendelics 1 1 4 0 0 0 6
3billion 3 1 2 0 0 0 6
MVZ Medizinische Genetik Mainz 2 2 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 1 0 0 0 0 0 1
Department of Endocrinology, Chinese PLA General Hospital 0 1 0 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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