ClinVar Miner

Variants in gene combination MYH11, NDE1

See also:
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 total
7 10 477 320 91 759

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial thoracic aortic aneurysm and aortic dissection 1 2 283 203 41 492
Aortic aneurysm, familial thoracic 4 5 1 215 131 49 358
not provided 1 3 82 68 19 167
not specified 0 0 20 74 48 130
Cardiovascular phenotype 0 0 36 32 20 88
Lissencephaly, Recessive 0 0 61 11 10 82
Lissencephaly 4 0 0 40 9 23 72
Connective tissue disease 0 0 5 17 0 22
none provided 0 0 1 4 17 22
Familial aortopathy 0 1 2 0 2 5
Isolated thoracic aortic aneurysm 0 0 4 0 0 4
Familial thoracic aortic aneurysm 0 0 2 0 0 2
Aortic aneurysm 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 0 1 0 1
Chronic intestinal pseudoobstruction 0 1 0 0 0 1
Esophageal and colonic dysmotility 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Intellectual disability 1 0 0 0 0 1
Tricuspid regurgitation; Myopia (disease); Mitral regurgitation; Abnormal morphology of the left ventricle; Aortic root dilatation 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Color Health, Inc 0 0 227 184 35 446
Invitae 4 1 138 124 31 298
GeneDx 2 0 59 69 59 189
Illumina Clinical Services Laboratory,Illumina 0 0 128 39 30 171
Ambry Genetics 0 0 37 32 20 89
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 11 24 44
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 14 13 15 42
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 20 19 0 41
Integrated Genetics/Laboratory Corporation of America 0 1 9 11 16 37
PreventionGenetics, PreventionGenetics 0 0 0 7 23 30
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 8 17 0 25
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 14 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 7 7 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 10 3 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 1 3 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 5 4 10
Blueprint Genetics 0 1 4 1 1 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 5 1 0 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 5
CSER _CC_NCGL, University of Washington 0 0 3 2 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 5
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 4 0 0 4
Baylor Genetics 0 0 3 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Mendelics 0 0 1 1 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 1 2
OMIM 1 0 0 0 0 1
Athena Diagnostics Inc 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.