ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.327G>C (p.Lys109Asn)

gnomAD frequency: 0.00001  dbSNP: rs1280251666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767799 SCV001999594 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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