ClinVar Miner

Variants studied for cognitive impairment with or without cerebellar ataxia

Included ClinVar conditions (2):
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
2 10 12 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN8A 2 10 11 23
LOC114803470, SCN8A 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 0 4 4 8
Fulgent Genetics,Fulgent Genetics 0 1 3 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 2
OMIM 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 1
New York Genome Center 0 1 0 1

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