ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) (rs45588436)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516640 SCV000612737 benign not specified 2017-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727277 SCV000707184 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717603 SCV000848456 likely benign Seizures 2016-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001082709 SCV001005580 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-11-06 criteria provided, single submitter clinical testing

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