ClinVar Miner

Variants in gene FAT4

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
40 20 1881 1272 163 2 3182

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 28 6 1305 1234 161 0 2623
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 7 515 19 2 1 542
Inborn genetic diseases 0 0 426 24 1 0 451
FAT4-related disorder 0 2 38 108 15 0 162
not specified 0 0 30 42 64 0 132
Hennekam lymphangiectasia-lymphedema syndrome 2 6 1 43 1 15 0 66
Van Maldergem syndrome 2 8 1 33 0 15 0 57
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
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
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: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 28 2 1137 1152 108 0 2427
Fulgent Genetics, Fulgent Genetics 0 6 507 15 2 0 530
Ambry Genetics 0 0 426 24 1 0 451
GeneDx 0 3 220 87 114 0 423
PreventionGenetics, part of Exact Sciences 0 2 36 108 15 0 161
CeGaT Center for Human Genetics Tuebingen 0 0 44 87 5 0 136
Breakthrough Genomics, Breakthrough Genomics 0 0 10 33 64 0 107
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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 35 0 0 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 14 8 0 0 22
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 7 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 0 0 7
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
3billion 0 0 0 4 0 0 4
Mendelics 0 0 1 0 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
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
Daryl Scott Lab, Baylor College of Medicine 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 2 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 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 Centre For Genomic Medicine, NCGM 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
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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