ClinVar Miner

Variants studied for hypogonadotropic hypogonadism 7 with or without anosmia

Included ClinVar conditions (10):
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 total
28 33 117 37 18 223

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GNRHR 26 16 76 8 17 134
SEMA3E 0 0 36 19 0 55
FGFR1 0 8 0 0 0 8
CCDC141 0 0 2 3 0 5
HS6ST1 0 1 0 3 1 4
POLR3B 1 1 1 0 0 3
AXL 0 0 0 2 0 2
PNPLA6 0 2 0 0 0 2
WDR11 0 0 1 1 0 2
​intergenic 0 0 1 0 0 1
ANOS1 0 1 0 0 0 1
BBIP1 1 0 0 0 0 1
FEZF1 0 0 0 1 0 1
PROKR2 0 1 0 0 0 1
RNF216 0 1 0 0 0 1
TAC3 0 1 0 0 0 1
TACR3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 3 0 72 8 17 100
Fulgent Genetics, Fulgent Genetics 8 10 38 26 0 82
OMIM 14 0 0 0 0 14
Chan Lab, Boston Children's Hospital 0 13 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 2 0 0 6
Mendelics 0 0 1 3 1 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 2 0 0 5
Endocrinology Clinic, Seth G.S. Medical College 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Revvity Omics, Revvity 2 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 2
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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