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:
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 not provided total
4 4 79 12 38 1 137

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 4 4 74 11 35 1 128
LOC126805598, PLEKHG5 0 0 4 1 2 0 7
PLEKHG5, TNFRSF25 0 0 1 0 1 0 2

Submitter and significance breakdown #

Total submitters: 9
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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
Genome-Nilou Lab 0 0 0 1 5 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 4
OMIM 1 0 0 0 0 0 1
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
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1

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