ClinVar Miner

Variants in gene CNNM4

Minimum submission review status: Collection method:
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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
37 17 285 202 28 1 543

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 5 208 194 20 1 443
Jalili syndrome 16 7 66 10 11 0 108
Inborn genetic diseases 0 0 58 2 0 0 60
CNNM4-related disorder 0 1 2 7 4 0 14
Retinal dystrophy 5 4 3 0 0 0 12
not specified 0 0 0 0 4 0 4
Retinitis pigmentosa 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 2 200 188 12 0 424
Illumina Laboratory Services, Illumina 0 0 64 10 11 0 85
Ambry Genetics 0 0 58 2 0 0 60
Breakthrough Genomics, Breakthrough Genomics 0 0 5 3 8 0 16
PreventionGenetics, part of Exact Sciences 0 1 2 7 5 0 15
GeneDx 1 1 2 0 7 0 11
CeGaT Center for Human Genetics Tuebingen 1 1 3 5 0 0 10
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 4 2 3 0 0 0 9
OMIM 7 0 0 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 6 0 1 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Piracicaba Dental School, University of Campinas 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 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 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 1
Ophthalmology Department, Faculty of Medicine, Ain Shams University 0 1 0 0 0 0 1

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