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 4 599 771 100 1433

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNMT1 5 4 562 693 89 1308
DNMT1, LOC126862853 1 0 12 48 8 67
DNMT1, LOC130063472 0 0 19 20 1 40
DNMT1, LOC107080555 0 0 3 10 2 15
DNMT1, SHFL 1 0 2 0 0 2
ANKRD17 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 547 763 70 1385
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
OMIM 3 0 0 0 0 3
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1

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