ClinVar Miner

Variants studied for arterial tortuosity syndrome

Included ClinVar conditions (1):
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
27 18 227 170 35 20 448

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC2A10 27 18 227 170 35 20 448

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 24 5 151 157 17 0 354
Illumina Laboratory Services, Illumina 0 0 81 12 26 0 119
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 8 4 12 0 26
GeneReviews 0 0 0 0 0 20 20
Fulgent Genetics, Fulgent Genetics 0 1 6 2 0 0 9
Revvity Omics, Revvity 3 2 3 0 0 0 8
OMIM 6 0 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 1 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 2 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 2 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 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
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1

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