ClinVar Miner

Variants studied for foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Included ClinVar conditions (1):
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
10 15 9 1 1 33

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 total
SLC38A8 10 15 9 1 1 33

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 3 6 0 1 0 10
Revvity Omics, Revvity 0 2 2 0 0 4
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 3 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
OMIM 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 1
Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 1

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