ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) (rs71651692)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704976 SCV000240554 benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV000531578 SCV000658099 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717241 SCV000848090 benign Seizures 2019-05-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000186981 SCV001475778 benign not specified 2020-01-30 criteria provided, single submitter clinical testing

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