ClinVar Miner

Variants studied for Cold-induced sweating syndrome 1

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
23 4 1 0 0 5 29

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
CRLF1 11 3 1 4 15
CRLF1, LOC112543470 6 1 0 0 7
KLHL7 4 0 0 0 4
CRLF1, LOC130064021 2 0 0 1 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 9 0 0 0 9
GeneReviews 1 0 0 5 6
National Research Council, Institute of Genetics and Biomedical Research 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 3
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 1 0 0 2
Istanbul Faculty of Medicine, Istanbul University 1 1 0 0 2
Revvity Omics, Revvity 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1
3billion 1 0 0 0 1
Suma Genomics 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 1

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