ClinVar Miner

Variants in gene FH

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
133 83 228 91 14 9 493

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 67 22 165 62 11 0 316
Hereditary cancer-predisposing syndrome 32 32 70 26 6 0 166
not provided 59 40 27 2 4 0 127
Multiple cutaneous leiomyomas 41 9 32 14 3 1 98
not specified 0 0 5 26 9 8 45
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 21 147 49 11 0 291
Ambry Genetics 32 32 70 26 6 0 166
GeneDx 50 38 19 23 9 0 139
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
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 5 0 6
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 5 0 0 0 5
PreventionGenetics 0 0 0 3 2 0 5
GeneReviews 5 0 0 0 0 0 5
Fulgent Genetics 1 1 3 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 3 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 2 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 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
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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