ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs)

dbSNP: rs2105124073
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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 RCV001716993 SCV001943317 pathogenic Intellectual disability, autosomal dominant 1 no assertion criteria provided clinical testing

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