ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)

dbSNP: rs1555837732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332572 SCV001524942 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2019-10-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001361768 SCV001557758 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2021-08-24 criteria provided, single submitter clinical testing

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