ClinVar Miner

Variants studied for Idiopathic basal ganglia calcification 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
26 22 55 16 36 2 144

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC20A2 26 20 39 16 33 2 123
LOC130000303, SLC20A2, SMIM19 0 0 12 0 1 0 13
SLC20A2, SMIM19 0 0 2 0 2 0 4
CHRNA6, CHRNB3, FNTA, HOOK3, RNF170, SLC20A2, SMIM19, THAP1 0 1 0 0 0 0 1
DUOX2 0 0 1 0 0 0 1
MYORG 0 1 0 0 0 0 1
PDGFB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 42 7 35 0 84
OMIM 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 5 0 9
Laboratory of Medical Genetics, University of Torino 0 9 0 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
Undiagnosed Diseases Network, NIH 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Department of Medical Biochemistry and Genetics, University of Turku 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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