ClinVar Miner

Variants studied for Bietti crystalline corneoretinal dystrophy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
44 17 96 10 25 182

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP4V2 42 15 39 7 9 103
CYP4V2, KLKB1 0 0 51 3 11 65
CYP4V2, LOC129993526 1 1 5 0 5 11
ABCA4 1 0 1 0 0 2
TH 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 0 85 9 25 121
GeneReviews 33 0 0 0 0 33
OMIM 9 0 0 0 0 9
3billion 3 2 3 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 2 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 3 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 4 0 0 0 0 4
Mendelics 1 1 0 0 2 4
Revvity Omics, Revvity 3 0 1 0 0 4
Centre for Human Genetics, University of Kinshasa 0 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 1
Genetic Diseases Diagnosis Center, Ankara Bilkent City Hospital 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Medical Genetics, Faculty of Medicine, Dokuz Eylül University 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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