ClinVar Miner

Submissions for variant NM_001012720.2(RGR):c.379T>A (p.Ser127Thr)

gnomAD frequency: 0.00001  dbSNP: rs145786088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761282 SCV001998903 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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