ClinVar Miner

Variants studied for neuronopathy, distal hereditary motor, autosomal recessive 8

Included ClinVar conditions (1):
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 total
7 4 9 0 3 19

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SORD 7 4 9 3 19

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance benign total
MGZ Medical Genetics Center 2 0 4 0 6
OMIM 5 0 0 0 5
Revvity Omics, Revvity 1 0 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 3
Genome-Nilou Lab 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
3billion, Medical Genetics 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 2
Baylor Genetics 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 1
Department of Neurology, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China 0 1 0 0 1

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