ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1A>G (p.Met1Val)

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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 RCV001004756 SCV001164235 likely pathogenic Intellectual disability, autosomal dominant 1 2018-10-25 criteria provided, single submitter clinical testing

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