ClinVar Miner

Variants studied for hypomagnesemia, seizures, and intellectual disability

Included ClinVar conditions (4):
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
19 8 20 15 16 77

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNNM2 14 6 12 15 3 49
ATP1A1 5 2 7 0 13 27
CNNM2, LOC130004628 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 1 6 11 0 18
Genome-Nilou Lab 0 0 0 0 15 15
Physiology, Radboud University Medical Center 9 0 1 0 1 11
OMIM 6 0 0 0 0 6
Molecular Physiology Group, Radboudumc 2 0 0 3 0 5
New York Genome Center 0 1 3 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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