ClinVar Miner

Variants in gene AEBP1

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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 total
31 12 244 314 58 629

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 24 8 219 302 57 593
not specified 0 0 33 16 2 51
AEBP1-related disorder 0 1 2 30 3 36
Ehlers-Danlos syndrome, classic-like, 2 8 3 9 0 5 24
Inborn genetic diseases 0 0 4 2 0 6
Autism spectrum disorder 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 1 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 0 1 0 0 1
High myopia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 5 173 276 39 516
GeneDx 2 0 54 23 27 106
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 33 16 2 52
PreventionGenetics, part of Exact Sciences 0 1 2 30 3 36
CeGaT Center for Human Genetics Tuebingen 1 2 8 18 0 29
Mayo Clinic Laboratories, Mayo Clinic 1 1 21 0 0 23
Breakthrough Genomics, Breakthrough Genomics 0 0 3 13 0 16
Ambry Genetics 0 0 4 2 0 6
OMIM 5 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Revvity Omics, Revvity 0 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
Baylor Genetics 2 0 1 0 0 3
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 1
Department Of Medical Genetics, University Of British Columbia 0 0 1 0 0 1

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