ClinVar Miner

Variants studied for FG syndrome 1

Included ClinVar conditions (6):
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
9 15 461 569 179 54 1259

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 9 14 434 530 171 52 1183
LOC126863275, MED12 0 1 25 39 7 2 73
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 6 443 566 173 0 1195
GeneReviews 0 0 0 0 0 51 51
Fulgent Genetics, Fulgent Genetics 1 0 7 5 1 0 14
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 1 1 1 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 0 0 0 0 3
3billion 1 1 1 0 0 0 3
Mendelics 0 1 0 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
OMIM 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
New York Genome Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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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