ClinVar Miner

Variants in gene TGFB2

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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
26 25 107 59 25 3 216

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Loeys-Dietz syndrome 0 3 42 17 11 0 73
Holt-Oram syndrome 9 3 37 14 7 0 70
not provided 5 16 17 8 3 2 48
not specified 1 0 2 25 10 1 38
Cardiovascular phenotype 3 2 14 6 1 0 26
Loeys-Dietz syndrome 4 10 2 6 0 4 0 21
Thoracic aortic aneurysm and aortic dissection 0 0 9 3 2 0 13
Connective tissue disorder 0 0 0 3 0 0 3
Inborn genetic diseases 1 0 1 0 0 0 2
Aortic aneurysm 0 0 1 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 5 12 14 31 9 0 71
Invitae 9 3 37 14 7 0 70
Illumina Clinical Services Laboratory,Illumina 0 0 42 17 11 0 70
Ambry Genetics 4 2 14 6 1 0 27
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 6 3 2 0 11
Blueprint Genetics 0 7 3 0 0 0 10
Center for Human Genetics, Inc 1 1 0 3 1 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 2 1 2 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 3 0 5
PreventionGenetics 0 0 0 1 4 0 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 2 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Department of Molecular Biophysics, University of Lodz 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 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
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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