ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.576C>T (p.Phe192=)

gnomAD frequency: 0.00001  dbSNP: rs148009259
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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) RCV000153031 SCV000202477 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403709 SCV001605587 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2022-06-08 criteria provided, single submitter clinical testing

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