ClinVar Miner

Variants in gene CTNNA3

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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 0 118 19 61 2 199

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia, familial, 13 2 92 9 26 0 128
See cases 0 10 9 14 0 33
not provided 0 6 2 16 0 24
Primary dilated cardiomyopathy 0 5 0 0 0 5
Primary familial hypertrophic cardiomyopathy 0 5 0 0 0 5
not specified 0 0 0 5 0 5
Left ventricular noncompaction cardiomyopathy 0 2 0 0 0 2
Long QT syndrome 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 1 1
Large for gestational age 0 0 0 0 1 1
Normal pregnancy 0 0 0 0 1 1
Premature ovarian failure 0 0 0 1 0 1
Small for gestational age 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 90 9 26 0 125
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 16 0 16
GeneDx 0 1 3 11 0 15
Blueprint Genetics 0 14 0 0 0 14
ISCA site 1 0 9 4 0 0 13
ISCA site 6 0 0 2 7 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 0 0 4
OMIM 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 2
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 2 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 0 0 0 2
ISCA site 7 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Phosphorus, Inc. 0 1 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1 0 0 0 0 1

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