ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.450-2A>C

dbSNP: rs777966258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769378 SCV002001241 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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