ClinVar Miner

Variants studied for septooptic dysplasia

Included ClinVar conditions (6):
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
20 7 56 20 5 98

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HESX1 17 4 54 20 5 90
RALGAPB 0 2 0 0 0 2
​intergenic 0 0 1 0 0 1
APPL1, ASB14, HESX1, IL17RD 0 0 1 0 0 1
ARID1A 1 0 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 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 1
SHH 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 1 44 16 5 71
Illumina Laboratory Services, Illumina 0 0 11 2 0 13
OMIM 9 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 2 0 0 5
Revvity Omics, Revvity 0 1 3 0 0 4
Human Developmental Genetics Laboratory, Medical College of Wisconsin 3 0 0 0 0 3
Mendelics 0 0 0 2 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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