ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.908-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149153 SCV003836724 pathogenic Intellectual disability, autosomal dominant 50 2021-12-22 criteria provided, single submitter clinical testing

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