ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) (rs55915440)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178797 SCV000167714 benign not specified 2012-04-03 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178797 SCV000230954 benign not specified 2015-02-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178797 SCV000305464 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000124287 SCV000511231 likely benign not provided 2016-07-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001085076 SCV000563070 benign Autosomal dominant nocturnal frontal lobe epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715841 SCV000846672 benign Seizures 2016-05-26 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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