ClinVar Miner

Variants in gene CTNND2

See also:
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
2 18 131 89 99 316

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 13 40 71 97 208
Inborn genetic diseases 0 2 74 14 1 91
CTNND2-related disorder 0 1 7 14 7 29
not specified 0 1 5 0 2 8
See cases 0 0 4 1 0 5
Neurodevelopmental disorder 0 0 2 0 0 2
CTNND2-associated Neurodevelopmental syndrome 0 0 1 0 0 1
CTNND2-associated neurodevelopmental disorder 0 0 1 0 0 1
Complex neurodevelopmental disorder 0 0 1 0 0 1
Delayed speech and language development; Severe global developmental delay 1 0 0 0 0 1
Schizophrenia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 7 4 55 93 159
Ambry Genetics 0 2 74 14 1 91
Breakthrough Genomics, Breakthrough Genomics 0 0 0 11 30 41
CeGaT Center for Human Genetics Tuebingen 0 0 13 18 3 34
PreventionGenetics, part of Exact Sciences 0 1 7 14 7 29
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 10 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 11 0 0 14
Revvity Omics, Revvity 0 0 6 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 2 1 0 0 3
ISCA site 1 0 0 2 1 0 3
Mendelics 0 0 1 0 1 2
Bionano Laboratories 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Department of Psychiatry, Nagoya University 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
ISCA Site 6 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.