ClinVar Miner

Variants studied for Stuve-Wiedemann syndrome

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
13 5 180 35 60 280

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LIFR 11 5 179 35 60 277
CCNO-DT, IL6ST 1 0 0 0 0 1
HSPG2 0 0 1 0 0 1
IL6ST 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 160 13 40 213
Natera, Inc. 3 2 17 20 17 59
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 3 8 15
Genome-Nilou Lab 0 0 0 0 9 9
OMIM 6 0 0 0 0 6
Baylor Genetics 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1

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