ClinVar Miner

Variants in gene ZNF469

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Minimum submission review status: Collection method:
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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
189 52 2653 2693 258 17 5148

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 146 18 1354 1987 157 1 3438
Cardiovascular phenotype 11 4 1528 1537 177 0 3254
not specified 0 0 423 358 128 0 829
Brittle cornea syndrome 1 18 29 142 26 107 10 315
Ehlers-Danlos syndrome 0 3 123 55 34 0 215
ZNF469-related disorder 0 0 33 107 12 0 152
Keratoconus 1 17 8 0 0 8 0 33
Fanconi anemia complementation group A 9 0 0 0 0 0 9
Cervical cancer 0 0 0 0 0 3 3
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Brittle cornea syndrome 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Connective tissue disorder 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Keratoconus 0 0 1 0 0 0 1
Varicose disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 11 4 1528 1537 177 0 3254
Labcorp Genetics (formerly Invitae), Labcorp 145 0 1026 1807 143 0 3121
GeneDx 2 13 462 236 104 0 816
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 9 392 319 49 0 779
Mayo Clinic Laboratories, Mayo Clinic 0 2 122 151 119 0 394
CeGaT Center for Human Genetics Tuebingen 0 2 116 160 12 0 290
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 124 55 34 0 216
PreventionGenetics, part of Exact Sciences 0 0 33 107 12 0 152
Breakthrough Genomics, Breakthrough Genomics 0 0 26 62 29 0 117
Genome-Nilou Lab 0 0 0 0 105 0 105
Fulgent Genetics, Fulgent Genetics 0 9 51 9 2 0 71
Eurofins Ntd Llc (ga) 3 1 34 1 24 0 63
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 26 24 0 50
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 41 6 0 0 48
Willoughby Group, Queen's University Belfast 17 8 0 0 8 0 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 26 6 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 19 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 8 1 0 17
Revvity Omics, Revvity 0 0 16 0 0 0 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 14 0 14
Baylor Genetics 0 0 13 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Leiden Open Variation Database 9 0 0 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 3 0 8
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 6 6
Center for Medical Genetics Ghent, University of Ghent 2 3 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 2 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
OMIM 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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