ClinVar Miner

Variants studied for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

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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 total
18 9 36 7 17 84

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
APTX 17 8 34 7 17 80
SETX 0 1 2 0 0 3
PNKP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 31 2 10 44
OMIM 9 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 4
Revvity Omics, Revvity 2 1 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Mendelics 0 0 0 1 1 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 1
3billion 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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