ClinVar Miner

Variants in gene FH

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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
219 120 502 215 29 10 964

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fumarase deficiency 163 51 424 141 17 0 772
Hereditary cancer-predisposing syndrome 57 47 129 72 6 0 309
not provided 60 39 30 44 5 0 173
Hereditary leiomyomatosis and renal cell cancer 43 10 40 5 18 2 116
not specified 0 1 8 25 9 8 47
Multiple Cutaneous and Uterine Leiomyomas 0 0 22 14 3 0 39
none provided 1 0 1 1 4 0 7
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 0 1 3 0 0 0 4
Microcephaly 0 0 2 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 1
FH-Related Disorders 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1
Uterine leiomyoma; Cutaneous leiomyoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 158 45 385 144 15 0 747
Ambry Genetics 57 45 130 72 6 0 310
GeneDx 51 37 20 39 10 0 157
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 36 8 10 0 0 0 54
Illumina Clinical Services Laboratory,Illumina 0 1 44 17 18 0 54
Natera, Inc. 2 0 33 3 4 0 42
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 17 3 7 1 1 0 29
OMIM 13 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 2 3 4 0 11
Integrated Genetics/Laboratory Corporation of America 0 2 1 0 6 0 9
ITMI 0 0 0 0 0 8 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 2 0 0 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 5 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 3 2 0 5
GeneReviews 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 1 3 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 3 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 4
Baylor Genetics 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 0 0 2
Mendelics 0 0 0 1 1 0 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 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
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1

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