ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=)

gnomAD frequency: 0.00001  dbSNP: rs764346961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611426 SCV000723601 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV000654351 SCV000776241 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-07-31 criteria provided, single submitter clinical testing

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