ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4088-9T>C

gnomAD frequency: 0.00001  dbSNP: rs762204285
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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 RCV002781492 SCV003034634 likely benign Cornelia de Lange syndrome 1 2023-05-09 criteria provided, single submitter clinical testing

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