ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)

dbSNP: rs1594129609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027665 SCV001190227 likely pathogenic Intellectual disability, autosomal dominant 40 2019-06-07 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265372 SCV001443497 pathogenic CHAMP1-related syndrome 2019-01-14 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-01-14 and interpreted as Pathogenic. Variant was initially reported on 2018-06-22 by GTR ID of laboratory name Unite de Recherche Inserm Institut IMAGINE. The reporting laboratory might also submit to ClinVar.

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