ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 20

Coded as:
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
59 33 101 157 27 3 368

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEF2C 54 33 101 157 27 3 363
ADGRV1, ARB2A, ARRDC3, CETN3, CRE1, LINC01339, LINC02060, LOC102724637, LOC105379082, LOC110120605, LOC110120640, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121147, LOC121079950, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MIR2277, MIR3660, MIR9-2, MIR9-2HG, NR2F1, POLR3G, POU5F2, TMEM161B, TMEM161B-DT 1 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 1
LOC129994183, LOC129994184, MEF2C 1 0 0 0 0 0 1
LOC129994186, MEF2C 1 0 0 0 0 0 1
MEF2C, MIR9-2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 26 9 86 157 27 0 305
OMIM 10 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 2 4 0 0 0 9
Revvity Omics, Revvity 2 0 4 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 0 2 0 0 0 5
Mendelics 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Baylor Genetics 0 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
3billion 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Centro Hospitalar S Joao, Faculty of Medicine of Porto 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 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 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1

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