ClinVar Miner

Variants in gene FAT4

Minimum submission review status: Collection method:
Minimum conflict level:
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
50 26 2090 1417 168 53 3572

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 38 8 1360 1368 163 0 2824
Inborn genetic diseases 0 0 680 39 1 0 720
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 7 521 19 2 3 549
FAT4-related disorder 0 3 38 108 15 0 163
not specified 0 0 46 54 66 0 161
Hennekam lymphangiectasia-lymphedema syndrome 2 6 1 50 1 15 0 73
Van Maldergem syndrome 2 8 1 37 0 15 0 61
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Colon adenocarcinoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Intellectual disability 0 0 2 2 1 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Neoplasm 0 2 2 0 0 0 4
Thymoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Pancreatic adenocarcinoma 0 0 0 0 0 3 3
Capillary infantile hemangioma 0 0 2 0 0 0 2
Colorectal cancer 0 0 0 0 0 2 2
Congenital anomaly of kidney and urinary tract 0 2 0 0 0 0 2
Congenital chromosomal disease 0 0 2 0 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 0 2
Lymphedema 0 0 0 0 2 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Autosomal recessive FAT4-related disorders 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Van Maldergem syndrome 0 1 0 0 0 0 1
Van Maldergem syndrome 1; Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 0 0 0 1 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: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 3 1181 1284 110 0 2615
Ambry Genetics 0 0 680 39 1 0 720
Fulgent Genetics, Fulgent Genetics 0 6 507 15 2 0 530
GeneDx 1 3 243 87 114 0 447
PreventionGenetics, part of Exact Sciences 0 2 36 108 15 0 161
CeGaT Center for Human Genetics Tuebingen 0 1 46 95 5 0 147
Breakthrough Genomics, Breakthrough Genomics 0 0 10 33 64 0 107
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 50 0 0 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 30 19 0 0 49
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 48 48
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 12 14 13 0 39
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 17 0 0 0 17
Baylor Genetics 0 0 15 0 0 0 15
Genome-Nilou Lab 0 0 0 0 15 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 12 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 11 0 0 0 11
OMIM 10 0 0 0 0 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 2 3 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 0 6 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 7 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 6 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 5 2 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 5 0 0 0 5
3billion 0 0 0 4 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 2 0 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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 2 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 1 0 0 0 3
Mendelics 0 0 1 0 2 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 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
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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