ClinVar Miner

Variants studied for Short stature-brachydactyly-obesity-global developmental delay 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 not provided total
15 13 18 0 5 2 49

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PRMT7 15 13 18 5 2 49

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 7 0 0 0 0 7
New York Genome Center 0 1 6 0 0 7
Genome-Nilou Lab 0 0 0 5 0 5
Baylor Genetics 0 0 4 0 0 4
Revvity Omics, Revvity 1 1 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 2 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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