ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)

gnomAD frequency: 0.00011  dbSNP: rs113794453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725342 SCV000240528 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19628475)
Eurofins Ntd Llc (ga) RCV000725342 SCV000336180 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000705714 SCV000834727 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725342 SCV003916318 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CHRNA4: BP4, BS2

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