ClinVar Miner

Submissions for variant NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=)

gnomAD frequency: 0.25972  dbSNP: rs1051730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514114 SCV003344489 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
OMIM RCV000019055 SCV000039342 risk factor Lung cancer susceptibility 2 2008-05-01 no assertion criteria provided literature only
OMIM RCV000033204 SCV000057050 risk factor Smoking as a quantitative trait locus 3 2008-05-01 no assertion criteria provided literature only

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