ClinVar Miner

Variants studied for Neuronopathy, distal hereditary motor, autosomal recessive 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
6 5 81 12 38 1 142

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 not provided total
PLEKHG5 6 5 76 11 35 1 133
LOC126805598, PLEKHG5 0 0 4 1 2 0 7
PLEKHG5, TNFRSF25 0 0 1 0 1 0 2

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 79 12 35 0 126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Genome-Nilou Lab 0 0 0 1 5 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
OMIM 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 1 1

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