ClinVar Miner

Variants in gene MPDZ

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Gene type:

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
98 65 1048 791 79 52 2023

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 80 39 826 745 75 0 1740
Inborn genetic diseases 3 0 386 40 0 0 429
Hydrocephalus, nonsyndromic, autosomal recessive 2 22 25 49 3 4 3 99
MPDZ-related disorder 0 7 13 51 11 0 82
not specified 0 0 9 7 18 0 34
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Meniere disease 0 0 7 0 0 0 7
Sarcoma 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
CTCF-related neurodevelopmental disorder 0 0 1 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hydrocephalus, nonsyndromic, autosomal recessive 2; Autosomal dominant retinitis pigmentosa 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Nonsyndromic hearing impairment 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Retinal disorder 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 76 34 790 728 72 0 1700
Ambry Genetics 3 0 386 40 0 0 429
PreventionGenetics, part of Exact Sciences 0 7 13 51 11 0 82
GeneDx 3 3 59 1 4 0 70
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 48 48
CeGaT Center for Human Genetics Tuebingen 2 0 8 34 2 0 46
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 5 12 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 3 4 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 3 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 6 0 0 0 8
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 7 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 2 0 6
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
3billion 2 1 0 2 0 0 5
OMIM 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Eurofins Ntd Llc (ga) 1 0 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 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
Dasa 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
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
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 0 1 0 1
Mendelics 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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