ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.305G>A (p.Arg102His)

dbSNP: rs267606317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145834 SCV000192971 pathogenic Ectopic tissue 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487771 SCV000575661 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003144121 SCV003834296 uncertain significance Lissencephaly type 1 due to doublecortin gene mutation 2019-10-15 criteria provided, single submitter clinical testing

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