ClinVar Miner

Variants studied for hypocalcemic rickets

Included ClinVar conditions (5):
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 likely risk allele not provided total
55 32 177 33 19 1 1 304

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
VDR 22 8 123 14 16 0 1 178
CYP27B1 28 20 40 10 2 1 0 95
CYP2R1, PDE3B 4 3 12 8 0 0 0 25
LOC130007784, VDR 0 0 2 0 0 0 0 2
CYP2R1, LOC130005371, PDE3B 0 0 0 1 0 0 0 1
PHEX, PTCHD1 0 1 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Illumina Laboratory Services, Illumina 0 2 127 14 16 0 0 159
Fulgent Genetics, Fulgent Genetics 2 3 31 20 1 0 0 57
OMIM 36 0 0 0 0 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 0 0 0 0 0 11
Revvity Omics, Revvity 3 3 4 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 6 0 0 0 0 10
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 7 0 0 0 0 0 9
3billion 3 2 3 0 0 0 0 8
Mendelics 4 0 1 0 1 0 0 6
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 0 5
Baylor Genetics 3 1 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 3 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 1 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1

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