ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.984C>T (p.Ile328=)

gnomAD frequency: 0.00009  dbSNP: rs371858399
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088970 SCV000658057 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595848 SCV000704079 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing

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