ClinVar Miner

Variants studied for FG syndrome

Included ClinVar conditions (15):
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 not provided total
54 40 548 593 185 55 1441

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MED12 9 14 437 530 171 52 1186
LOC126863275, MED12 0 1 26 39 7 2 74
FLNA 1 1 39 19 3 1 64
FGD1 26 11 21 4 1 0 60
CASK 17 9 13 1 1 0 39
FGD1, TSR2 1 4 7 0 1 0 12
FLNA, LOC107988032 0 0 3 0 1 0 4
CXorf65, FOXO4, GJB1, IL2RG, ITGB1BP2, MED12, NLGN3, NONO, SLC7A3, SNX12, TAF1, TEX11, ZMYM3 0 0 1 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 6 444 566 173 0 1196
Fulgent Genetics, Fulgent Genetics 3 0 28 21 5 0 57
GeneReviews 0 0 0 0 0 51 51
OMIM 23 0 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 5 2 0 0 12
Baylor Genetics 3 2 6 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 3 0 0 11
3billion 4 2 4 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 2 6 0 0 0 9
Revvity Omics, Revvity 0 1 7 0 0 0 8
Mendelics 3 1 2 1 1 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 3 3 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 1 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 3 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 2 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Keegan Laboratory, University of Michigan 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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