Variants studied for Neuronopathy, distal hereditary motor, type 2B

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
11	9	12	2	15	48

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	benign	total
HSPB1	10	9	12	2	15	47
FKRP	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	10	2	15	27
OMIM	7	0	0	0	0	7
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon	1	4	0	0	0	5
Institute of Human Genetics, University of Leipzig Medical Center	1	1	2	0	0	4
Kariminejad - Najmabadi Pathology & Genetics Center	1	1	0	0	0	2
Baylor Genetics	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1

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