ClinVar Miner

Variants studied for Primary hypomagnesemia

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 not provided total
25 10 60 8 18 2 117

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 not provided total
CLDN16 25 10 60 8 18 2 117

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 53 7 16 0 77
OMIM 18 0 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 3 4 1 2 0 10
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 4 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Revvity Omics, Revvity Omics 0 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Suma Genomics 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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