ClinVar Miner

Variants studied for diabetes insipidus

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 uncertain risk allele not provided total
75 46 99 37 61 2 3 300

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
AQP2, AQP5 15 10 61 10 29 0 1 120
AVPR2 32 24 20 15 26 0 2 111
AQP2 9 6 16 8 6 0 0 40
AVP 19 5 2 4 0 2 0 28
MATN4 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 0 1 77 13 52 0 0 143
OMIM 56 0 0 0 0 0 0 56
Fulgent Genetics, Fulgent Genetics 4 10 5 17 1 0 0 37
Natera, Inc. 2 3 6 10 4 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 17 0 1 0 0 2 24
Genome-Nilou Lab 0 0 1 0 16 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 0 6
3billion 3 1 2 0 0 0 0 6
MVZ Medizinische Genetik Mainz 2 2 2 0 0 0 0 6
Baylor Genetics 2 2 1 0 0 0 0 5
Mendelics 1 1 3 0 0 0 0 5
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 0 2 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 1
Department of Endocrinology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1

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