ClinVar Miner

Variants studied for isolated ectopia lentis

Included ClinVar conditions (13):
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 not provided total
50 34 440 71 116 11 696

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 32 23 291 46 81 7 469
ADAMTSL4 18 11 127 21 25 3 193
FBN1, LOC126862124 0 0 8 2 3 1 12
ADAMTSL4, LOC129931411 0 0 4 0 1 0 5
FBN1, LOC130057020 0 0 4 0 1 0 5
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 0 2 0 4
ADAMTSL4, LOC129931410 0 0 2 1 1 0 3
LTBP2 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 168 42 110 0 321
Fulgent Genetics, Fulgent Genetics 23 15 213 20 0 0 271
Genome-Nilou Lab 3 5 70 14 17 0 109
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 8 29 2 1 0 51
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 7 0 0 0 13
OMIM 10 0 0 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
Mendelics 4 0 0 0 0 0 4
3billion, Medical Genetics 1 0 1 2 0 0 4
GeneReviews 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Suma Genomics 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Elahi Laboratory, University of Tehran 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Farhud Genetics Clinic, Farhud Genetics Lab 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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