ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) (rs373979305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000377332 SCV000472162 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504491 SCV000597535 uncertain significance not specified 2016-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717167 SCV000848015 likely benign History of neurodevelopmental disorder 2018-01-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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