ClinVar Miner

Variants studied for Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
3 3 5 0 6 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DNMT1 3 3 5 6 16

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Nilou-Genome Lab 0 0 0 6 6
OMIM 3 0 0 0 3
Baylor Genetics 0 0 2 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris 1 0 0 0 1

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