ClinVar Miner

Variants studied for Spinocerebellar ataxia type 14

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
26 23 37 9 18 15 114

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
PRKCG 26 23 37 9 18 15 114

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 24 9 17 0 50
GeneReviews 16 0 0 0 0 15 31
OMIM 11 0 0 0 0 0 11
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 7 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 6 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 3 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Mendelics 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 0 2
O&I group, Department of Genetics, University Medical Center of Groningen 1 1 0 0 0 0 2
3billion, Medical Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 1

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