Variants studied for peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

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	total
13	4	19	2	0	35

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
MCM3AP	13	4	18	2	34
PNPLA7	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	11	0	0	0	11
Baylor Genetics	0	2	5	0	7
Revvity Omics, Revvity	0	0	7	0	7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	4	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1	2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	1	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1

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