ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.8370del (p.Thr2791fs)

dbSNP: rs1755229121
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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, University of Leipzig Medical Center RCV001253571 SCV001429360 uncertain significance Cornelia de Lange syndrome 1 2019-11-05 criteria provided, single submitter clinical testing

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