ClinVar Miner

Variants in gene FH

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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
429 339 1212 847 266 122 2529

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 340 173 851 635 44 1 1907
Hereditary cancer-predisposing syndrome 201 128 679 426 17 0 1429
Hereditary leiomyomatosis and renal cell cancer 91 75 57 93 240 82 579
Fumarase deficiency 43 59 238 16 8 2 340
not specified 0 0 57 82 21 8 154
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 7 17 41 7 5 3 78
FH-related disorder 4 1 17 30 0 0 52
Ovarian serous cystadenocarcinoma 0 0 0 0 0 15 15
Hepatocellular carcinoma 0 1 0 0 0 5 6
Ovarian cancer 0 5 0 0 0 0 5
Inherited phaeochromocytoma and paraganglioma excluding NF1 0 1 1 0 0 0 2
Inherited renal cancer 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Microcephaly 0 0 2 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Cutaneous leiomyoma 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatoblastoma 0 0 1 0 0 0 1
Hereditary cancer 0 1 0 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma 1 0 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
See cases 1 0 0 0 0 0 1
Spinocerebellar ataxia 45 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine leiomyoma; Cutaneous leiomyoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 324 99 772 593 23 0 1811
Ambry Genetics 201 124 662 415 8 0 1410
Myriad Genetics, Inc. 49 45 1 84 222 0 401
GeneDx 55 58 169 64 28 0 374
Natera, Inc. 3 31 159 9 4 0 206
Quest Diagnostics Nichols Institute San Juan Capistrano 18 15 63 18 16 0 130
Baylor Genetics 23 26 80 0 0 0 129
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 3 1 37 70 12 0 123
Blake Wilde Laboratory, Roswell Park Comprehensive Cancer Center 0 0 0 0 0 75 75
Fulgent Genetics, Fulgent Genetics 7 14 31 5 0 0 57
PreventionGenetics, part of Exact Sciences 3 1 17 33 2 0 56
Sema4, Sema4 3 2 22 21 7 0 55
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 36 8 10 0 0 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 11 9 1 8 0 45
Illumina Laboratory Services, Illumina 1 2 31 4 17 0 42
Department of Pathology and Laboratory Medicine, Sinai Health System 3 2 10 7 15 0 37
CeGaT Center for Human Genetics Tuebingen 6 7 8 14 0 0 35
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 32 32
Eurofins Ntd Llc (ga) 17 3 7 1 1 0 29
Molecular Pathology, Peter Maccallum Cancer Centre 6 5 12 0 0 0 23
Mayo Clinic Laboratories, Mayo Clinic 2 4 8 4 4 0 22
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 3 13 0 0 0 18
Revvity Omics, Revvity 7 1 9 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 4 3 5 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 9 0 16
Genetic Services Laboratory, University of Chicago 0 2 8 5 1 0 16
OMIM 15 0 0 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 0 3 4 0 13
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 0 2 9 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 5 3 0 10
MGZ Medical Genetics Center 4 4 2 0 0 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 7 0 0 0 9
3billion 2 3 2 1 0 0 8
ITMI 0 0 0 0 0 8 8
Clinical Genetics Laboratory, Skane University Hospital Lund 4 2 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 4 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 5 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 1 2 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 2 0 0 5
GeneReviews 0 0 0 0 0 5 5
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 0 5 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 1 0 0 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 5 0 0 0 0 5
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 2 0 4
Mendelics 1 1 0 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 2 0 0 0 3
Academic Department of Medical Genetics, University of Cambridge 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 1 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
CZECANCA consortium 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 0 0 0 0 0 1 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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