ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile)

gnomAD frequency: 0.00001  dbSNP: rs541282922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000654344 SCV000240420 benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432768 SCV001635547 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-08-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937658 SCV004752799 likely benign CHRNA2-related disorder 2019-07-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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