ClinVar Miner

Variants in gene EED

Minimum submission review status: Collection method:
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Gene type:
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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
6 7 57 36 33 133

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cohen-Gibson syndrome 6 4 22 21 10 62
not provided 1 1 14 14 25 55
Inborn genetic diseases 0 0 19 2 0 21
EED-related disorder 0 0 3 6 2 11
Autism spectrum disorder 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 1
Neurodevelopmental delay 0 1 0 0 0 1
not specified 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
Labcorp Genetics (formerly Invitae), Labcorp 1 0 19 25 10 55
GeneDx 1 1 9 0 24 35
Ambry Genetics 0 0 19 2 0 21
CeGaT Center for Human Genetics Tuebingen 0 0 4 9 1 14
PreventionGenetics, part of Exact Sciences 0 0 3 6 2 11
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 9 11
OMIM 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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