ClinVar Miner

Variants studied for Idiopathic basal ganglia calcification 1

Coded as:
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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
22 19 52 16 35 2 133

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC20A2 22 18 36 16 32 2 113
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
PDGFB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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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 2 0 2 0 0 0 4
Undiagnosed Diseases Network, NIH 4 0 0 0 0 0 4
Revvity Omics, Revvity Omics 0 2 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 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

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