ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.687C>T (p.Gly229=)

gnomAD frequency: 0.00001  dbSNP: rs1050947622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814566 SCV000954979 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-18 criteria provided, single submitter clinical testing

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