ClinVar Miner

Variants in gene APTX

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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
31 17 124 132 57 311

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 15 9 69 113 43 233
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 17 10 36 7 17 84
not specified 0 0 5 19 21 42
Inborn genetic diseases 2 0 25 4 0 31
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 10 2 3 15
Coenzyme Q10 deficiency, Oculomotor Apraxia Type 0 0 8 3 3 14
APTX-related disorder 1 0 0 4 2 7
Coenzyme Q10 deficiency, primary, 1 0 0 1 0 0 1
Epilepsy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 0 35 78 18 143
GeneDx 3 3 12 45 33 96
Illumina Laboratory Services, Illumina 1 0 37 5 12 50
Athena Diagnostics 1 4 17 4 8 34
Breakthrough Genomics, Breakthrough Genomics 0 0 0 12 20 32
Ambry Genetics 2 0 25 4 0 31
CeGaT Center for Human Genetics Tuebingen 5 2 11 5 1 24
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 1 6 13
Eurofins Ntd Llc (ga) 0 0 5 2 5 12
OMIM 9 0 0 0 0 9
PreventionGenetics, part of Exact Sciences 1 0 0 5 3 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 1 3 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 3 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 5 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 1 3 6
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 5 6
Clinical Genetics, Academic Medical Center 0 0 0 2 3 5
Revvity Omics, Revvity 2 1 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 2 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 0 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
3billion 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 1
Bionano Laboratories 0 0 1 0 0 1
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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