ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003741128 SCV004543863 likely pathogenic Developmental and epileptic encephalopathy 94 2021-07-01 criteria provided, single submitter clinical testing

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