ClinVar Miner

Variants in gene combination MYH11, NDE1

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Minimum submission review status: Collection method:
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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
18 19 733 567 112 1 1255

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 4 14 6 389 385 59 0 798
Familial thoracic aortic aneurysm and aortic dissection 1 4 462 304 50 0 755
not provided 1 5 169 130 57 0 340
not specified 0 0 25 70 57 0 140
Lissencephaly, Recessive 0 0 61 11 10 0 82
Lissencephaly 4 0 0 40 9 23 0 72
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 52 2 0 0 54
Connective tissue disorder 0 0 5 17 0 0 22
Inborn genetic diseases 0 0 18 2 0 0 20
Cardiovascular phenotype 0 0 4 4 11 0 19
MYH11-related condition 0 1 10 0 0 0 11
Visceral myopathy 2 2 1 0 0 6 0 8
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 0 0 6 0 6
Familial aortopathy 0 1 2 0 2 0 5
Isolated thoracic aortic aneurysm 0 0 4 0 0 0 4
Congenital aneurysm of ascending aorta 0 0 2 0 0 0 2
Stroke disorder 0 0 1 1 0 0 2
Abnormality of connective tissue 0 0 1 0 0 0 1
Aortic aneurysm 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 0 1 0 0 1
Chronic intestinal pseudoobstruction 0 1 0 0 0 0 1
Esophageal and colonic dysmotility 0 1 0 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 0 0 0 1 1
Intellectual disability 1 0 0 0 0 0 1
Small cervical vertebral bodies 0 0 1 0 0 0 1
Tricuspid regurgitation; Myopia; Mitral regurgitation; Abnormal left ventricle morphology; Aortic root aneurysm 0 1 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 4 313 360 45 0 733
Color Diagnostics, LLC DBA Color Health 0 0 316 235 36 0 587
Ambry Genetics 0 1 192 152 20 0 364
GeneDx 2 1 130 115 71 0 319
Illumina Laboratory Services, Illumina 0 0 128 39 30 0 171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 17 29 29 0 76
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 30 15 29 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 25 29 0 68
CeGaT Center for Human Genetics Tuebingen 0 2 20 32 4 0 58
Fulgent Genetics, Fulgent Genetics 0 0 51 2 0 0 53
Preventiongenetics, part of Exact Sciences 0 1 10 7 23 0 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 23 7 0 33
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 18 9 0 28
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 15 11 0 28
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 8 17 0 0 25
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 14 0 16
Revvity Omics, Revvity Omics 0 0 12 0 0 0 12
Eurofins Ntd Llc (ga) 0 0 8 1 3 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 5 6 0 11
AiLife Diagnostics, AiLife Diagnostics 0 1 9 0 0 0 10
Blueprint Genetics 0 1 4 1 1 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 5 1 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 5 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 5
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 1 0 0 4
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mendelics 1 0 1 1 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Institute of Human Genetics, University Hospital Muenster 0 0 2 1 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1 0 2
Athena Diagnostics Inc 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1

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