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
25 19 276 92 30 399

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 19 9 151 66 15 246
Cone-rod dystrophy 15 5 3 122 11 6 143
Cone-Rod Dystrophy, Recessive 0 0 20 15 7 42
not specified 0 0 4 3 13 19
Retinal dystrophy 4 8 6 0 0 17
Retinitis pigmentosa 3 2 2 0 0 6
none provided 0 0 2 0 4 6
Cone-rod degeneration 2 1 0 0 0 3
Retinitis pigmentosa 65 2 0 0 0 0 2
Cone dystrophy 0 0 1 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1
maculopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 3 135 66 11 231
Illumina Clinical Services Laboratory,Illumina 0 0 133 23 13 169
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 0 4 9
GeneDx 1 0 4 0 4 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 4 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 2
INSERM U1051, Institut des Neurosciences de Montpellier 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 1

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