ClinVar Miner

Variants studied for diabetes insipidus, nephrogenic, autosomal

Included ClinVar conditions (1):
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 total
23 11 73 9 33 144

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 total
AQP2, AQP5 14 7 58 7 27 110
AQP2 9 4 15 2 6 34

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 67 7 25 100
OMIM 18 0 0 0 0 18
Genome-Nilou Lab 0 0 1 0 14 15
Fulgent Genetics, Fulgent Genetics 2 6 1 3 1 13
Baylor Genetics 2 1 1 0 0 4
3billion 3 0 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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