ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4561-16C>T

gnomAD frequency: 0.02404  dbSNP: rs115403650
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146612 SCV000193914 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000146612 SCV000513939 benign not specified 2016-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001807083 SCV002055935 benign Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001807083 SCV002471974 benign Cornelia de Lange syndrome 1 2024-02-01 criteria provided, single submitter clinical testing

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