ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)

gnomAD frequency: 0.00023  dbSNP: rs868845088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704724 SCV000714709 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000687377 SCV000814941 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317347 SCV000851220 likely benign Inborn genetic diseases 2017-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
New York Genome Center RCV000720343 SCV001431115 uncertain significance Seizure 2019-11-12 no assertion criteria provided clinical testing

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