ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 39

Included ClinVar conditions (2):
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
25 25 35 3 4 7 92

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYT1L 23 25 35 3 4 6 89
ACP1, ALKAL2, FAM110C, MYT1L, PXDN, SH3YL1, SNTG2, TMEM18, TPO 2 0 0 0 0 0 2
​intergenic 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 1 0 0 11
Revvity Omics, Revvity 0 0 10 0 0 0 10
GenomeConnect - Brain Gene Registry 0 0 0 0 0 7 7
New York Genome Center 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
Baylor Genetics 0 2 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Mendelics 0 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1

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