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
78 69 183 44 61 2 3 410

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
AVPR2 34 29 42 21 26 0 2 145
AQP2, AQP5 15 20 75 10 29 0 1 141
AVP 20 8 33 5 0 2 0 64
AQP2 9 11 33 8 6 0 0 59
MATN4 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Fulgent Genetics, Fulgent Genetics 8 34 95 24 1 0 0 162
Illumina Laboratory Services, Illumina 0 1 77 13 52 0 0 143
OMIM 56 0 0 0 0 0 0 56
Natera, Inc. 2 3 6 10 4 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 17 0 0 0 0 2 23
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, Medical Genetics 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 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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