ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) (rs71651693)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422281 SCV000512622 likely benign not specified 2017-05-10 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 RCV001088119 SCV000776249 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711174 SCV000841504 benign not provided 2018-06-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711174 SCV001500394 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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