ClinVar Miner

Variants in gene CDHR1

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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
17 18 215 56 30 301

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cone-rod dystrophy 15 2 0 119 11 6 136
not provided 9 7 83 30 15 133
Cone-Rod Dystrophy, Recessive 0 0 20 15 7 42
not specified 0 0 4 3 14 19
Retinal dystrophy 4 8 6 0 0 17
Retinitis pigmentosa 3 2 2 0 0 6
Cone-rod degeneration 2 1 0 0 0 3
Cone/cone-rod dystrophy; Macular dystrophy 1 0 1 0 0 2
Cone/cone-rod dystrophy; Retinal pigment epithelial atrophy; Peripheral visual field loss 0 0 2 0 0 2
Retinitis pigmentosa 65 2 0 0 0 0 2
Visual impairment; Abnormal electroretinogram; Cone/cone-rod dystrophy; Photophobia 1 0 1 0 0 2
Cone/cone-rod dystrophy 0 0 1 0 0 1
Cone/cone-rod dystrophy; Horizontal nystagmus; Muscular hypotonia 0 0 1 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1
Visual impairment; Macular atrophy; Drusen; Hypoautofluorescent macular lesion 0 1 0 0 0 1
maculopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 133 23 13 169
Invitae 7 2 67 30 11 117
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 13 0 5 20
Blueprint Genetics 3 5 6 0 0 14
PreventionGenetics,PreventionGenetics 0 0 0 2 11 13
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 9 0 0 10
GeneDx 1 0 4 0 4 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 0 4 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 5 0 0 6
Sharon lab,Hadassah-Hebrew University Medical Center 4 2 0 0 0 6
Mendelics 1 0 4 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 3 0 4
OMIM 3 0 0 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 1 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
INSERM U1051, Institut des Neurosciences de Montpellier 0 0 2 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 1

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