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
5 9 118 21 16 153

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cone-Rod Dystrophy, Recessive 0 0 104 15 7 126
not provided 1 6 22 0 4 32
not specified 0 0 1 3 13 16
Cone-rod dystrophy 15 1 0 3 3 0 7
Retinal dystrophy 1 3 0 0 0 4
Retinitis pigmentosa 1 2 0 0 0 2
Retinitis pigmentosa 65 2 0 0 0 0 2
Cone/cone-rod dystrophy 0 0 1 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 104 15 7 126
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 13 0 5 20
PreventionGenetics 0 0 0 2 11 13
GeneDx 1 0 4 0 4 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 0 0 9
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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