ClinVar Miner

Variants studied for Stüve-Wiedemann syndrome 1

Included ClinVar conditions (2):
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 total
20 11 186 41 64 304

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 18 11 185 41 64 301
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 162 13 40 215
Natera, Inc. 3 2 17 20 17 59
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 9 18 34
Fulgent Genetics, Fulgent Genetics 1 1 6 2 1 11
Genome-Nilou Lab 0 0 0 0 9 9
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 3 2 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 1 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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