ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288989 SCV002581295 uncertain significance Cornelia de Lange syndrome 1 2022-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002288989 SCV005673413 uncertain significance Cornelia de Lange syndrome 1 2024-04-16 criteria provided, single submitter clinical testing

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