ClinVar Miner

Variants in gene SLC2A10

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
28 25 321 237 59 20 590

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arterial tortuosity syndrome 26 18 226 170 35 20 447
Familial thoracic aortic aneurysm and aortic dissection 6 4 105 72 21 0 198
not provided 5 9 75 66 15 0 164
not specified 0 0 22 50 25 0 82
SLC2A10-related condition 2 1 3 11 0 0 17
Cardiovascular phenotype 2 0 4 1 0 0 7
Inborn genetic diseases 0 0 4 1 0 0 5
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 1
Bicuspid aortic valve 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 5 151 162 17 0 358
Ambry Genetics 7 0 103 71 13 0 194
GeneDx 4 7 63 67 39 0 180
Illumina Laboratory Services, Illumina 0 0 81 12 26 0 119
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 19 22 9 0 54
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 3 17 7 17 0 45
CeGaT Center for Human Genetics Tuebingen 0 2 14 17 1 0 34
PreventionGenetics, part of Exact Sciences 2 1 3 16 10 0 32
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 9 6 12 0 29
GeneReviews 0 0 0 0 0 20 20
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 5 4 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 3 0 10
Fulgent Genetics, Fulgent Genetics 0 1 6 2 0 0 9
Revvity Omics, Revvity 3 2 3 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 3 0 7
OMIM 6 0 0 0 0 0 6
Eurofins Ntd Llc (ga) 0 0 3 1 2 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 4 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 1 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 2 0 4
Baylor Genetics 1 1 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 1 0 3
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 0 0 0 2
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 2 0 0 0 0 2
Shaine Morris Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 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 Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1

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