ClinVar Miner

Variants studied for Autism 17

Coded as:
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 risk factor total
1 0 4 4 1 3 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign risk factor total
SHANK2 1 4 4 1 3 12

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign risk factor total
OMIM 0 0 0 0 3 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 1 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 1

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