ClinVar Miner

Variants studied for Familial isolated deficiency of vitamin E

Coded as:
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
16 41 70 6 10 15 135

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
TTPA 16 41 70 6 10 15 135

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 49 1 9 0 59
Baylor Genetics 10 23 0 0 0 0 33
Natera, Inc. 6 1 17 3 4 0 31
Counsyl 0 13 7 1 0 0 21
GeneReviews 1 0 0 0 0 15 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 3 1 2 1 0 0 7
Myriad Genetics, Inc. 3 3 0 0 0 0 6
Mendelics 1 1 0 0 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 1 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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