ClinVar Miner

Variants studied for Hypogonadotropic hypogonadism 5 with or without anosmia

Coded as:
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
19 11 130 40 47 247

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHD7 15 10 123 37 46 231
CHD7, LOC126860403 2 0 7 3 1 13
SEMA3E 1 1 0 0 0 2
​intergenic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 120 40 42 202
Baylor Genetics 5 2 3 0 0 10
Genome-Nilou Lab 0 0 0 0 5 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 3 0 0 0 4
OMIM 3 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 0 0 0 0 1
School of Life Sciences, Central South University 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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