ClinVar Miner

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

dbSNP: rs1170839204
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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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