Variants studied for Hereditary sensory and autonomic neuropathy type 6

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	7	103	19	15	152

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DST	13	7	103	19	15	152

Submitter and significance breakdown #

Total submitters: 18

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	75	16	6	97
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	7	1	0	9
Baylor Genetics	0	0	8	0	0	8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	6	7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	3	2	2	7
Genome-Nilou Lab	0	0	0	0	7	7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	3	1	2	0	0	6
OMIM	5	0	0	0	0	5
3billion	3	1	0	0	0	4
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	4	0	0	4
Centogene AG - the Rare Disease Company	0	0	2	0	0	2
NeuroMeGen, Hospital Clinico Santiago de Compostela	1	1	0	0	0	2
Medical Genetics Unit, University of L'Aquila	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	1	0	0	0	0	1
Breda Genetics srl	0	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.