ClinVar Miner

Variants in gene AVP

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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 total
28 12 68 18 13 2 125

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele total
Neurohypophyseal diabetes insipidus 20 7 34 5 0 2 65
not provided 13 2 25 15 13 0 64
Inborn genetic diseases 0 0 15 3 0 0 18
AVP-related disorder 2 3 0 0 2 0 7
Diabetes insipidus 0 1 0 0 0 0 1
Diabetes insipidus, neurohypophyseal, autosomal recessive 1 0 0 0 0 0 1
early-onset neurohypophyseal diabetes insipidus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele total
Labcorp Genetics (formerly Invitae), Labcorp 10 0 16 14 7 0 47
Fulgent Genetics, Fulgent Genetics 3 2 31 5 0 0 41
OMIM 19 0 0 0 0 0 19
Ambry Genetics 0 0 15 3 0 0 18
GeneDx 1 1 7 0 6 0 15
PreventionGenetics, part of Exact Sciences 2 3 0 0 2 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 0 0 0 0 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 0 2 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 1 0 1 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1

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