ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.255+7G>A

dbSNP: rs190374968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000397177 SCV000337044 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV001086270 SCV001008861 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-11-18 criteria provided, single submitter clinical testing

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