ClinVar Miner

Variants studied for FG syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
13 16 627 798 197 57 1668

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MED12 12 15 593 742 186 55 1565
LOC126863275, MED12 1 1 32 56 10 2 100
CASK 0 0 0 0 1 0 1
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 9 604 792 191 0 1607
GeneReviews 0 0 0 0 0 51 51
Fulgent Genetics, Fulgent Genetics 1 0 9 5 1 0 16
Genome-Nilou Lab 0 0 0 0 6 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
3billion 2 0 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Mendelics 0 1 0 0 1 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 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
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OMIM 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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