ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser)

dbSNP: rs1554014382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000515746 SCV000611784 likely pathogenic Cornelia de Lange syndrome 1 2017-09-12 criteria provided, single submitter clinical testing

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