ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr)

dbSNP: rs377087067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291637 SCV001480211 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2019-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001347811 SCV001542089 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-08-04 criteria provided, single submitter clinical testing

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