ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6763+20T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002696085 SCV002990603 benign Cornelia de Lange syndrome 1 2024-03-04 criteria provided, single submitter clinical testing

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