ClinVar Miner

Variants in gene FAT4

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
35 10 1372 1088 165 2 2529

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 23 5 1210 1058 163 0 2361
Inborn genetic diseases 0 0 212 12 1 0 225
FAT4-related condition 0 1 21 100 15 0 137
not specified 0 0 27 38 64 0 126
Hennekam lymphangiectasia-lymphedema syndrome 2 6 0 22 1 15 0 44
Van Maldergem syndrome 2 8 1 19 0 15 0 43
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 11 5 2 1 19
Ascites; Pleural effusion; Wide intermamillary distance; Right ventricular hypertrophy; Low-set nipples; Chylothorax; Hydrops fetalis 0 0 1 1 0 0 2
Capillary infantile hemangioma 0 0 2 0 0 0 2
Congenital anomaly of kidney and urinary tract 0 2 0 0 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Van Maldergem syndrome 0 1 0 0 0 0 1
Van Maldergem syndrome 1; Hennekam lymphangiectasia-lymphedema syndrome 1; Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 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
Invitae 23 2 1075 982 108 0 2190
GeneDx 0 3 169 87 114 0 372
Ambry Genetics 0 0 212 12 1 0 225
PreventionGenetics, part of Exact Sciences 0 1 21 100 15 0 137
CeGaT Center for Human Genetics Tuebingen 0 0 34 63 6 0 103
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 15 27 0 47
Clinical Genetics, Academic Medical Center 0 0 1 6 33 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 11 13 0 35
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 29 0 29
Genetic Services Laboratory, University of Chicago 0 0 10 11 4 0 25
Revvity Omics, Revvity 0 0 16 0 0 0 16
Baylor Genetics 0 0 15 0 0 0 15
Genome-Nilou Lab 0 0 0 0 15 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 10 4 0 0 14
Fulgent Genetics, Fulgent Genetics 0 0 4 5 2 0 11
OMIM 10 0 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 7 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 0 6 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 1 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 7 0 0 8
Eurofins Ntd Llc (ga) 0 0 6 1 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 5 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Mendelics 0 0 1 0 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 1 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 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
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 1 0 0 0 1

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