ClinVar Miner

Variants studied for Paroxysmal extreme pain disorder

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
11 1 79 18 122 229

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCN1A, SCN9A 10 0 67 14 109 199
SCN9A 1 0 12 4 13 29
IDH1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 77 18 118 213
Genome-Nilou Lab 0 0 0 0 11 11
OMIM 7 0 0 0 0 7
Xenon Pharmaceuticals, Inc. 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 0 0 0 0 1

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