ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)

gnomAD frequency: 0.00016  dbSNP: rs774449832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711475 SCV000240551 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456836 SCV000550933 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-09-22 criteria provided, single submitter clinical testing

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