ClinVar Miner

Variants studied for Autosomal recessive axonal neuropathy with neuromyotonia

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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
22 6 45 16 6 91

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 total
HINT1 22 6 45 16 6 91

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 3 44 15 5 79
OMIM 7 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 3
Neuromuscular Group, Huashan Hospital, Fudan University 0 2 0 0 0 2
3billion 2 0 0 0 0 2
CMT Laboratory, Bogazici University 2 0 0 0 0 2
Revvity Omics, Revvity Omics 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
Department of Neurology, Second Xiangya Hospital of Central South University 0 1 0 0 0 1

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