Variants studied for autosomal dominant cerebellar ataxia, deafness and narcolepsy

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
4	4	25	8	6	1	47

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DNMT1	4	3	23	6	6	1	42
DNMT1, LOC126862853	0	1	2	2	0	0	5

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	17	8	1	0	26
Genome-Nilou Lab	0	0	0	0	6	0	6
OMIM	3	0	0	0	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	2	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
Mendelics	0	1	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
3billion	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	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.