ClinVar Miner

Variants in gene FH

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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
166 104 324 164 19 9 698

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fumarase deficiency 92 30 214 27 4 0 359
Hereditary cancer-predisposing syndrome 53 50 138 64 6 0 309
not provided 60 40 29 100 16 0 235
Multiple cutaneous leiomyomas 43 9 32 14 3 1 100
not specified 0 1 6 26 9 8 47
Multiple Cutaneous and Uterine Leiomyomas 0 0 22 14 3 0 39
Fumarase deficiency; Multiple cutaneous leiomyomas 0 1 3 0 0 0 4
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 1
FH-Related Disorders 0 0 1 0 0 0 1
Uterine leiomyoma; Cutaneous leiomyoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 88 28 196 95 14 0 421
Ambry Genetics 53 48 138 64 6 0 309
GeneDx 51 38 19 39 10 0 157
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 36 8 10 0 0 0 54
Illumina Clinical Services Laboratory,Illumina 0 1 23 14 3 0 40
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 17 3 7 1 1 0 29
OMIM 11 0 0 0 0 0 11
ITMI 0 0 0 0 0 8 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 2 3 0 7
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 5 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 Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 3 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
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
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 1

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