ClinVar Miner

Variants studied for Neuropathy, hereditary motor and sensory, type 6B

Coded as:
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
21 8 155 111 15 309

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
SLC25A46 19 8 155 111 15 307
LOC129994343, LOC129994344, SLC25A46, TMEM232 1 0 0 0 0 1
LOC129994345, SLC25A46 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 5 151 111 15 298
OMIM 7 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Inherited Neuropathy Consortium 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1

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