ClinVar Miner

Variants studied for Jalili syndrome

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
16 8 63 9 11 105

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNNM4 16 8 63 9 11 105

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 61 9 11 81
OMIM 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 2
3billion 0 0 1 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Ophthalmology Department, Faculty of Medicine, Ain Shams University 0 1 0 0 0 1
Piracicaba Dental School, University of Campinas 1 0 0 0 0 1

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