ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)

gnomAD frequency: 0.00001  dbSNP: rs750562280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133027 SCV003815918 uncertain significance Cornelia de Lange syndrome 1 2019-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003133027 SCV005720794 likely benign Cornelia de Lange syndrome 1 2024-02-18 criteria provided, single submitter clinical testing

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