ClinVar Miner

Variants in gene CTNNA1

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Gene type:

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
204 60 1836 1535 446 37 3578

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 134 31 1435 1111 60 2 2737
Hereditary cancer-predisposing syndrome 82 11 1014 803 30 0 1937
Hereditary diffuse gastric adenocarcinoma 65 12 6 147 391 0 620
Patterned macular dystrophy 2 6 10 101 14 7 5 141
not specified 0 0 21 60 18 0 94
CTNNA1-related disorder 0 2 26 34 4 0 66
Hereditary nonpolyposis colon cancer 0 0 18 18 7 0 43
Colorectal cancer 5 1 7 0 0 0 13
Retinal dystrophy 0 1 11 0 0 0 12
Polyposis syndrome, hereditary mixed, 1 0 3 4 0 0 0 7
Hepatocellular carcinoma 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
CTNNA1-related diffuse gastric and lobular breast cancer syndrome 0 1 1 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
CTNNA1-associated FEVR 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Congenital fibrosis of extraocular muscles 0 0 1 0 0 0 1
Craniosynostosis syndrome 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 134 25 1396 1079 37 0 2671
Ambry Genetics 82 10 1012 704 29 0 1837
Myriad Genetics, Inc. 65 12 0 147 391 0 615
GeneDx 0 2 167 16 27 0 212
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 98 0 0 100
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 21 59 9 0 93
Baylor Genetics 2 9 78 0 0 0 89
PreventionGenetics, part of Exact Sciences 0 2 26 34 4 0 66
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 25 21 9 0 56
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 31 31
Fulgent Genetics, Fulgent Genetics 0 0 25 6 0 0 31
CeGaT Center for Human Genetics Tuebingen 0 0 2 21 1 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 1 21 0 0 22
Genomic Center, National Cancer Institute 5 4 11 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 6 6 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 4 3 0 12
Blueprint Genetics 0 1 7 0 0 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 2 3 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 2 2 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 2 0 4
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 2 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 2 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
OMIM 3 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
3billion 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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