ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) (rs45569837)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079312 SCV000111182 benign not specified 2013-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000079312 SCV000167717 benign not specified 2013-03-01 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.
Invitae RCV000475854 SCV000563071 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716628 SCV000847470 likely benign Seizures 2016-04-29 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Athena Diagnostics Inc RCV000079312 SCV001475774 benign not specified 2019-10-03 criteria provided, single submitter clinical testing

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