ClinVar Miner

Submissions for variant NM_000746.6(CHRNA7):c.45G>A (p.Ser15=)

gnomAD frequency: 0.00013  dbSNP: rs200390587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882657 SCV001025909 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920577 SCV004731183 likely benign CHRNA7-related disorder 2019-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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