ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)

dbSNP: rs143402032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466506 SCV000550934 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-03-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991792 SCV001143539 benign not provided 2019-04-23 criteria provided, single submitter clinical testing

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