ClinVar Miner

Variants studied for Hereditary sensory neuropathy-deafness-dementia syndrome

Coded as:
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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
7 3 509 627 97 1196

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNMT1 5 3 480 564 86 1093
DNMT1, LOC126862853 1 0 12 41 8 60
DNMT1, LOC130063472 0 0 13 13 1 27
DNMT1, LOC107080555 0 0 3 9 2 14
DNMT1, SHFL 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 1 463 618 67 1153
Illumina Laboratory Services, Illumina 0 0 31 17 53 101
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 15 0 0 15
Genome-Nilou Lab 0 0 0 0 6 6
OMIM 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 3
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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