ClinVar Miner

Variants studied for familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

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
37 20 125 10 31 2 215

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLDN16 28 13 64 8 18 2 125
CLDN19 9 7 61 2 13 0 90

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 103 8 29 0 141
Fulgent Genetics, Fulgent Genetics 1 4 18 2 2 0 27
OMIM 23 0 0 0 0 0 23
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 6 1 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
3billion 2 2 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Revvity Omics, Revvity 0 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 0 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 2 0 0 0 0 0 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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 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, Royal Melbourne Hospital 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 1

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