ClinVar Miner

Variants in gene AVPR2

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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
76 39 103 156 38 2 368

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 46 7 45 123 30 0 242
Diabetes insipidus, nephrogenic, X-linked 31 8 18 6 26 0 88
Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 3 8 28 16 0 1 56
not specified 1 0 9 9 9 0 27
Inborn genetic diseases 0 2 12 11 1 0 26
Nephrogenic diabetes insipidus 5 14 1 0 0 1 21
AVPR2-related disorder 3 3 5 5 1 0 17
Nephrogenic syndrome of inappropriate antidiuresis 3 1 0 0 2 0 6
See cases 0 1 0 3 0 0 4

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 3 32 116 28 0 208
Fulgent Genetics, Fulgent Genetics 2 8 28 16 0 0 54
Illumina Laboratory Services, Illumina 0 0 9 6 26 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 12 7 8 0 1 32
GeneDx 12 1 10 0 6 0 29
Ambry Genetics 0 2 12 11 1 0 26
PreventionGenetics, part of Exact Sciences 3 3 5 5 7 0 23
OMIM 22 0 0 0 0 0 22
Athena Diagnostics 5 2 2 0 5 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 12 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 5 0 7
CeGaT Center for Human Genetics Tuebingen 0 0 0 7 0 0 7
Mendelics 1 1 4 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 3 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 3 0 5
3billion 3 1 1 0 0 0 5
Revvity Omics, Revvity 2 0 2 0 0 0 4
MVZ Medizinische Genetik Mainz 2 1 1 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 3
ISCA Site 6 0 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 1 0 0 0 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 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 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
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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Department of Endocrinology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1

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