ClinVar Miner

Variants in gene MERTK

See also:
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 44 198 44 32 3 335

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 27 16 150 36 17 3 244
Retinitis pigmentosa 5 8 49 6 12 0 80
Retinal dystrophy 4 13 20 0 0 0 37
Retinitis pigmentosa 38 17 9 5 1 3 0 35
Autosomal recessive retinitis pigmentosa 12 0 0 0 0 0 12
not specified 0 0 2 0 6 0 8
Retinitis Pigmentosa, Recessive 0 0 2 1 0 0 3
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 5 133 35 15 0 212
Illumina Clinical Services Laboratory,Illumina 0 0 51 7 12 0 70
Blueprint Genetics 4 11 15 0 0 0 30
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 14 0 6 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 2 2 5 0 12
Faculty of Health Sciences,Beirut Arab University 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 6 0 0 0 9
OMIM 8 0 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 5 2 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 5 0 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 2 3 0 0 0 6
Mendelics 3 1 0 0 1 0 5
GeneDx 1 1 2 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 2 0 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 3 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Lineagen, Inc 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1

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