ClinVar Miner

Variants in gene MPDZ

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
85 58 962 727 79 2 1824

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 69 35 808 689 75 0 1654
Inborn genetic diseases 3 0 253 29 0 0 285
Hydrocephalus, nonsyndromic, autosomal recessive 2 19 19 44 3 4 2 87
MPDZ-related disorder 0 7 13 51 11 0 82
not specified 0 0 9 5 18 0 32
Meniere disease 0 0 7 0 0 0 7
Congenital hydrocephalus 0 1 0 0 0 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 0 0 1 0 0 0 1
Nonsyndromic hearing impairment 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 31 774 674 72 0 1616
Ambry Genetics 3 0 253 29 0 0 285
PreventionGenetics, part of Exact Sciences 0 7 13 51 11 0 82
GeneDx 3 3 55 1 4 0 66
CeGaT Center for Human Genetics Tuebingen 2 0 7 31 1 0 41
Breakthrough Genomics, Breakthrough Genomics 0 0 2 8 26 0 36
Genetic Services Laboratory, University of Chicago 1 0 5 3 17 0 26
Baylor Genetics 1 1 16 0 0 0 18
Revvity Omics, Revvity 1 4 9 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 3 2 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 6 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 3 0 0 0 7
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 7 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 4 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 5 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 2 0 6
OMIM 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Eurofins Ntd Llc (ga) 1 0 2 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 0 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Athena Diagnostics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 0 1 0 1

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