ClinVar Miner

Variants studied for Hypercalcemia, infantile, 1

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
18 10 76 16 24 135

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP24A1 18 10 76 16 24 135

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 1 61 4 24 93
Fulgent Genetics, Fulgent Genetics 4 1 14 12 0 31
Revvity Omics, Revvity 4 1 4 0 0 9
OMIM 7 0 0 0 0 7
MVZ Medizinische Genetik Mainz 3 1 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 1 0 0 3
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 1 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
3billion 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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