ClinVar Miner

Variants studied for brittle cornea syndrome

Included ClinVar conditions (3):
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
14 24 290 73 120 7 470

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZNF469 5 15 245 67 113 6 394
PRDM5 8 9 42 6 5 1 70
LOC130059718, ZNF469 0 0 2 0 1 0 3
LOC130059719, ZNF469 1 0 1 0 1 0 3

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 209 55 30 0 294
Genome-Nilou Lab 0 0 0 0 108 0 108
Fulgent Genetics, Fulgent Genetics 0 0 38 10 2 0 50
Revvity Omics, Revvity 0 1 20 0 0 0 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 18 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 18 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 8 1 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 16 0 0 0 0 16
Baylor Genetics 0 0 14 0 0 0 14
OMIM 10 0 0 0 0 0 10
Center for Medical Genetics Ghent, University of Ghent 4 6 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 1 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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