ClinVar Miner

Variants in gene CTNNA1

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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 not provided total
119 33 1490 1172 79 2 2759

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 92 20 1259 933 59 1 2341
Hereditary cancer-predisposing syndrome 0 1 613 542 27 0 1183
Patterned macular dystrophy 2 3 0 60 8 3 1 75
CTNNA1-related condition 0 1 17 28 4 0 50
Hereditary diffuse gastric adenocarcinoma 38 6 0 1 0 0 45
Colorectal cancer 5 1 7 0 0 0 13
not specified 0 0 0 2 9 0 10
Retinal dystrophy 0 1 7 0 0 0 8
Polyposis syndrome, hereditary mixed, 1 0 3 4 0 0 0 7
Inborn genetic diseases 0 0 2 0 0 0 2
CTNNA1-associated FEVR 0 1 0 0 0 0 1
Congenital fibrosis of extraocular muscles 0 0 1 0 0 0 1
Craniosynostosis syndrome 0 1 0 0 0 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 92 19 1241 911 36 0 2299
Ambry Genetics 0 0 615 444 27 0 1086
GeneDx 0 0 79 16 27 0 122
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 98 0 0 100
Baylor Genetics 0 0 56 0 0 0 56
PreventionGenetics, part of Exact Sciences 0 1 17 28 4 0 50
Myriad Genetics, Inc. 38 6 0 1 0 0 45
Genomic Center, National Cancer Institute 5 4 11 0 0 0 20
Fulgent Genetics, Fulgent Genetics 0 0 4 5 0 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 3 0 9
Blueprint Genetics 0 1 7 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 0 6
Clinical Genetics, Academic Medical Center 0 0 0 2 3 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
Genetic Services Laboratory, University of Chicago 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 2 0 4
OMIM 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Mendelics 0 0 0 0 2 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 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
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1

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