ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)

gnomAD frequency: 0.00011  dbSNP: rs144716263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794741 SCV000934167 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001564634 SCV001787829 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001564634 SCV002541690 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing

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