ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.76+18G>T

gnomAD frequency: 0.00504  dbSNP: rs199908363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186614 SCV000167729 benign not specified 2013-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000186614 SCV000202480 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055467 SCV002406184 benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483243 SCV002803642 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 2021-08-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717004 SCV005311247 benign not provided criteria provided, single submitter not provided

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