ClinVar Miner

Variants studied for hereditary leiomyomatosis and renal cell cancer

Included ClinVar conditions (4):
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
72 56 66 37 24 7 228

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FH 71 56 65 37 24 7 226
CHML, CHRM3, EXO1, FH, FMN2, GREM2, KMO, MAP1LC3C, OPN3, PLD5, RGS7, RYR2, WDR64, ZP4 1 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 37 32 0 17 9 0 95
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 36 8 10 0 0 0 54
Illumina Laboratory Services, Illumina 0 1 32 16 17 0 52
Fulgent Genetics, Fulgent Genetics 0 4 13 5 0 0 22
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 10 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 2 0 0 0 0 12
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 0 2 7 0 11
MGZ Medical Genetics Center 4 4 2 0 0 0 10
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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