ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.294C>T (p.Ala98=) (rs142184978)

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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 RCV000146562 SCV000193858 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146562 SCV000203091 benign not specified 2014-01-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401918 SCV000457263 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000146562 SCV000523310 likely benign not specified 2016-01-25 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.

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