ClinVar Miner

Variants in gene CDON

Minimum submission review status: Collection method:
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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 total
4 2 119 59 37 207

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holoprosencephaly sequence 0 0 108 58 14 180
not specified 0 0 0 3 25 28
Holoprosencephaly 11 4 0 3 0 9 16
not provided 0 1 8 1 0 10
Abnormality of brain morphology 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 109 58 14 181
PreventionGenetics 0 0 0 3 25 28
Invitae 0 0 2 0 9 11
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 2 0 0 2
Ambry Genetics 0 0 1 0 0 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1

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