ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.4G>A (p.Ala2Thr)

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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 RCV003149143 SCV003836710 likely pathogenic Intellectual disability, autosomal dominant 30 2021-03-25 criteria provided, single submitter clinical testing

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