ClinVar Miner

Variants studied for Developmental delay with variable intellectual impairment and behavioral abnormalities

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 total
36 13 57 0 1 106

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TCF20 35 13 57 1 105
A4GALT, ARFGAP3, ATP5MGL, BIK, CYB5R3, CYP2D6, MCAT, NAGA, NDUFA6, NFAM1, PACSIN2, PHETA2, POLDIP3, RRP7A, SCUBE1, SERHL2, SMDT1, TCF20, TSPO, TTLL1, TTLL12 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance benign total
Revvity Omics, Revvity 1 0 32 0 33
OMIM 9 0 0 0 9
New York Genome Center 1 0 8 0 9
Baylor Genetics 0 1 5 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 3
3billion 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 2
Mendelics 1 0 0 1 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1

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