ClinVar Miner

Variants in gene SLC2A10

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
25 13 208 119 49 1 352

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arterial tortuosity syndrome 23 7 167 59 31 1 258
not provided 6 7 50 39 7 0 107
not specified 0 0 7 51 25 0 70
Cardiovascular phenotype 4 0 24 16 11 0 55
Familial thoracic aortic aneurysm and aortic dissection 1 1 8 4 9 0 23
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; Marfanoid habitus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 2 88 65 14 0 177
GeneDx 5 5 39 46 30 0 125
Illumina Clinical Services Laboratory,Illumina 0 0 81 12 26 0 119
Ambry Genetics 4 0 24 16 11 0 55
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 13 5 0 0 22
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 8 4 9 0 21
Integrated Genetics/Laboratory Corporation of America 0 1 2 9 9 0 21
GeneReviews 20 0 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 5 5 7 0 18
PreventionGenetics, PreventionGenetics 0 0 0 5 10 0 15
OMIM 6 0 0 0 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 2 0 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 2 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 2 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 2 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 2 0 4
Baylor Genetics 1 0 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lineagen, Inc 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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