ClinVar Miner

Variants studied for cold-induced sweating syndrome

Included ClinVar conditions (5):
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
34 12 5 0 3 5 52

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
KLHL7 12 6 3 3 0 21
CRLF1 11 5 1 0 4 17
CRLF1, LOC112543470 5 1 0 0 0 6
CLCF1, LOC100130987 4 0 1 0 0 5
CRLF1, LOC130064021 2 0 0 0 1 3

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 21 0 0 0 0 21
GeneReviews 1 0 0 0 5 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 4
National Research Council, Institute of Genetics and Biomedical Research 4 0 0 0 0 4
Istanbul Faculty of Medicine, Istanbul University 3 1 0 0 0 4
Mendelics 0 0 0 3 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 1 0 0 0 2
3billion 2 0 0 0 0 2
Centre for Human Genetics, University of Kinshasa 0 1 1 0 0 2
Suma Genomics 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 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 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1
Department of Molecular Genetics, Genome Genetics Laboratory 0 0 1 0 0 1

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