ClinVar Miner

Variants in gene SLC2A10

Minimum submission review status: Collection method:
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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
23 10 155 82 36 257

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arterial tortuosity syndrome 22 2 114 33 18 170
not provided 5 6 44 11 9 74
not specified 0 0 6 43 25 67
Cardiovascular phenotype 3 1 24 16 11 55
Thoracic aortic aneurysm and aortic dissection 1 1 6 2 5 15
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 1
Bicuspid aortic valve 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 1
Thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 5 5 39 46 30 125
Invitae 5 1 61 17 13 97
Illumina Clinical Services Laboratory,Illumina 0 0 54 12 6 72
Ambry Genetics 3 1 24 16 11 55
GeneReviews 20 0 0 0 0 20
PreventionGenetics 0 0 0 5 10 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 4 3 6 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 6 2 5 13
OMIM 6 0 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 2 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 2 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 2 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 4 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 2 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 2 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 1 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Blueprint Genetics, 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1

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