ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1437C>T (p.His479=) (rs374849310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431796 SCV000512603 likely benign not specified 2016-07-25 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.
Invitae RCV000869702 SCV001011149 benign Autosomal dominant nocturnal frontal lobe epilepsy 2019-12-31 criteria provided, single submitter clinical testing

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