ClinVar Miner

Submissions for variant NM_001080472.4(FITM2):c.146T>A (p.Leu49His)

dbSNP: rs2146092876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763037 SCV001989128 uncertain significance not provided 2020-09-11 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
Undiagnosed Diseases Network, NIH RCV003492268 SCV004242217 uncertain significance Siddiqi syndrome 2023-02-28 no assertion criteria provided clinical testing

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