ClinVar Miner

Variants in gene combination MYH11, NDE1

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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 total
3 7 239 174 66 388

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Thoracic aortic aneurysm and aortic dissection 1 2 95 75 33 171
Aortic aneurysm, familial thoracic 4 2 1 77 62 33 165
not specified 0 0 17 66 46 120
Lissencephaly, Recessive 0 0 67 15 13 95
Cardiovascular phenotype 0 0 38 30 20 88
not provided 1 1 64 8 13 85
Connective tissue disorder 0 0 5 17 0 22
Familial aortopathy 0 1 2 0 2 5
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
Lissencephaly 4 0 0 1 0 0 1
Tricuspid regurgitation; Myopia; 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 2 0 57 52 43 154
Invitae 1 1 62 53 29 146
Illumina Clinical Services Laboratory,Illumina 0 0 84 31 13 115
Color 0 0 28 36 30 94
Ambry Genetics 0 0 38 30 20 88
PreventionGenetics 0 0 0 7 23 30
Center for Human Genetics, Inc 0 1 8 17 0 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 5 14 25
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 9 9 6 24
Integrated Genetics/Laboratory Corporation of America 0 1 5 4 8 18
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 2 0 10
Blueprint Genetics, 0 1 4 1 1 7
Fulgent Genetics 0 0 6 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 2 0 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 5 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
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
OMIM 1 0 0 0 0 1
Athena Diagnostics Inc 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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