ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.1070G>C (p.Arg357Thr)

dbSNP: rs796053286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766836 SCV000243051 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000189412 SCV000597127 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing

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