ClinVar Miner

Variants in gene DCX

Minimum submission review status: Collection method:
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Gene type:
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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
107 29 15 9 8 160

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Heterotopia 71 19 0 0 0 90
not provided 15 7 9 1 1 33
Subcortical laminar heterotopia, X-linked 16 0 0 0 0 16
Lissencephaly, X-linked 11 3 1 0 0 15
not specified 0 0 3 5 6 12
Abnormal cortical gyration 9 1 0 0 0 10
History of neurodevelopmental disorder 0 0 0 5 1 6
See cases 1 0 1 0 0 2
Fucosidosis 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 84 20 2 2 3 111
GeneDx 13 6 5 2 2 28
OMIM 14 0 0 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 3 1 2 8
Ambry Genetics 0 0 1 5 1 7
PreventionGenetics 0 0 0 2 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
Athena Diagnostics Inc 0 0 1 0 0 1
Lineagen Inc. 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 1
ISCA site 4 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 1

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