ClinVar Miner

Variants studied for Hypercalcemia, infantile, 2

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
13 18 15 0 3 41

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SLC34A1 13 18 15 3 41

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 2 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 1 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 2
Genome-Nilou Lab 0 0 0 2 2
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 1 1 0 0 2
3billion 0 1 1 0 2
Baylor Genetics 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 0 0 1 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1

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