ClinVar Miner

Variants in gene ZNF469

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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
133 37 1921 2111 212 6 3905

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 101 15 1050 1648 154 0 2836
Cardiovascular phenotype 4 2 860 1014 139 0 2019
Brittle cornea syndrome 1 5 15 244 67 113 5 393
Ehlers-Danlos syndrome 0 3 123 55 34 0 215
not specified 0 0 76 59 73 0 201
Inborn genetic diseases 0 0 111 25 0 0 136
ZNF469-related condition 0 0 17 90 11 0 118
Keratoconus 1 17 8 0 0 8 0 33
Fanconi anemia complementation group A 9 0 0 0 0 0 9
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 0 3
Brittle cornea syndrome 0 0 0 0 0 1 1
Connective tissue disorder 0 0 1 0 0 0 1
Joint laxity 0 0 1 0 0 0 1
Keratoconus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 101 0 836 1548 143 0 2628
Ambry Genetics 4 2 971 1039 139 0 2155
GeneDx 1 12 342 235 104 0 694
Illumina Laboratory Services, Illumina 0 0 173 51 25 0 249
CeGaT Center for Human Genetics Tuebingen 0 2 83 126 9 0 220
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 124 55 34 0 216
PreventionGenetics, part of Exact Sciences 0 0 17 90 11 0 118
Genome-Nilou Lab 0 0 0 0 105 0 105
Eurofins Ntd Llc (ga) 3 1 34 1 24 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 11 27 12 0 0 50
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 26 24 0 50
Fulgent Genetics, Fulgent Genetics 0 0 36 9 2 0 47
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 0 0 0 14
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
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
Genetic Services Laboratory, University of Chicago 0 0 5 0 0 0 5
Center for Medical Genetics Ghent, University of Ghent 2 3 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
OMIM 3 0 0 0 0 0 3
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
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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