ClinVar Miner

Variants studied for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Coded as:
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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 total
4 7 6 1 51 69

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP1A3 4 7 6 1 50 68
ATP1A3, LOC130064543 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 51 51
Centogene AG - the Rare Disease Company 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1

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