ClinVar Miner

Variants in gene CTNNA3

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Minimum submission review status: Collection method:
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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
2 3 552 305 136 3 949

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 13 2 1 433 202 52 2 685
Inborn genetic diseases 0 0 153 112 0 0 265
not provided 0 0 35 69 85 1 186
not specified 0 0 0 6 41 0 43
See cases 0 0 7 5 10 0 22
CTNNA3-related condition 0 0 7 8 2 0 17
Primary dilated cardiomyopathy 0 0 5 0 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 5
Long QT syndrome 0 1 2 0 0 0 3
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 0 0 0 1
Intellectual disability, mild 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 1 0 0 0 0 1
Syncope 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 418 201 52 0 671
Ambry Genetics 0 0 153 112 0 0 265
GeneDx 0 0 2 51 74 0 127
Clinical Genetics, Academic Medical Center 0 0 10 0 40 0 50
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 14 18 0 40
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 5 10 11 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 8 7 10 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 6 18 0 24
CeGaT Center for Human Genetics Tuebingen 0 0 9 7 3 0 19
PreventionGenetics, part of Exact Sciences 0 0 7 8 2 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 5 10 2 0 17
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 16 0 16
Blueprint Genetics 0 0 14 0 0 0 14
Revvity Omics, Revvity 0 0 8 2 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 8 1 0 0 9
ISCA Site 6 0 0 0 2 7 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 8 0 0 0 8
ISCA site 1 0 0 5 2 0 0 7
New York Genome Center 0 0 4 0 0 0 4
OMIM 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genomic Center, National Cancer Institute 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Dept of Medical Biology, Uskudar University 0 1 0 0 0 0 1

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