ClinVar Miner

Variants studied for Septo-optic dysplasia sequence

Coded as:
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
9 5 20 4 0 35

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
HESX1 6 3 20 4 30
ARID1A 1 0 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
RALGAPB 0 1 0 0 1
SHH 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Illumina Laboratory Services, Illumina 0 0 11 2 13
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 2 0 5
Revvity Omics, Revvity 0 1 3 0 4
OMIM 3 0 0 0 3
Human Developmental Genetics Laboratory, Medical College of Wisconsin 3 0 0 0 3
Mendelics 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 2
Baylor Genetics 0 0 1 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 1
3billion, Medical Genetics 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1

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