ClinVar Miner

Variants studied for Stromme syndrome

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 total
14 12 29 3 30 85

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 total
CENPF 13 12 28 3 30 83
CENPF, LOC126806006 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 30 30
Baylor Genetics 3 2 10 0 0 15
Fulgent Genetics, Fulgent Genetics 2 0 7 1 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 6 2 0 0 8
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 2 0 0 0 0 2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
College of Medicine Research Centre, King Saud Univeristy 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1

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