ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics,Cologne University	RCV000788108	SCV000926265	uncertain significance	Cornelia de Lange syndrome 1		no assertion criteria provided	clinical testing

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