ClinVar Miner

Variants studied for Aarskog syndrome

Coded as:
Minimum submission review status: Collection method:
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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
26 17 33 5 2 77

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
FGD1 25 13 25 4 1 63
FGD1, TSR2 1 4 8 1 1 14

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 11 0 1 0 0 12
Revvity Omics, Revvity 0 1 7 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 3 3 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 1 0 6
Mendelics 2 0 2 1 0 5
3billion 2 1 2 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 3 0 0 4
Baylor Genetics 1 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Keegan Laboratory, University of Michigan 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
New York Genome Center 1 0 0 0 0 1

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