ClinVar Miner

Variants studied for vitamin D-dependent rickets, type 2

Included ClinVar conditions (2):
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 not provided total
23 9 125 14 17 1 183

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VDR 22 8 123 14 16 1 178
LOC130007784, VDR 0 0 2 0 0 0 2
PHEX, PTCHD1 0 1 0 0 0 0 1
PHYH 0 0 0 0 1 0 1
PRSS1, TRB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 96 11 15 0 122
Fulgent Genetics, Fulgent Genetics 1 0 14 4 0 0 19
OMIM 15 0 0 0 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 5 0 0 0 7
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 6
Mendelics 2 0 1 0 1 0 4
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 1 3 0 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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