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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
5	4	79	12	38	1	138

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	5	4	74	11	35	1	129
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	2	3	0	0	0	0	5
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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