ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile) (rs121912272)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186903 SCV000240474 likely benign not specified 2017-04-27 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.
Ambry Genetics RCV000720488 SCV000851365 uncertain significance Seizures 2016-12-01 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090872 SCV001246634 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084600 SCV000116736 not provided Tobacco use disorder no assertion provided not provided

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