ClinVar Miner

Variants in gene CDON

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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
4 3 162 66 97 322

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holoprosencephaly 11 4 0 105 35 85 226
Holoprosencephaly sequence 0 0 42 2 1 45
not provided 0 1 9 29 4 43
not specified 0 0 0 3 25 28
Epilepsy 0 0 2 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Congenital ocular coloboma 0 1 0 0 0 1
Holoprosencephaly 1 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 1
Muscular dystrophy; Global developmental delay; Respiratory insufficiency; Macrocephalus; Cerebellar vermis hypoplasia; Hypertrophic cardiomyopathy 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 140 31 82 253
Invitae 0 0 8 37 22 67
PreventionGenetics,PreventionGenetics 0 0 0 3 25 28
GeneDx 0 1 4 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 2 5
OMIM 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Ambry Genetics 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
ISCA site 6 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1

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