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
14 8 75 16 24 128

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 14 8 75 16 24 128

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 3 1 61 4 24 93
Fulgent Genetics, Fulgent Genetics 4 1 14 12 0 31
Revvity Omics, Revvity Omics 4 1 4 0 0 9
OMIM 7 0 0 0 0 7
Baylor Genetics 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 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 Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

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