ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)

gnomAD frequency: 0.00002  dbSNP: rs986105665
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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 RCV002606821 SCV003504101 likely benign Cornelia de Lange syndrome 1 2022-06-26 criteria provided, single submitter clinical testing

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