ClinVar Miner

Variants studied for Primary erythromelalgia

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 not provided total
9 3 81 15 107 16 214

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A, SCN9A 6 2 67 11 96 10 180
SCN9A 3 1 14 4 11 6 34

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 70 14 102 0 186
GeneReviews 0 0 0 0 0 16 16
Genome-Nilou Lab 0 0 0 0 11 0 11
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 3 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1

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