ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1947_2001+3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760243 SCV000890077 likely pathogenic Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2017-03-24 criteria provided, single submitter clinical testing

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