ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His)

dbSNP: rs2145436323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760728 SCV001990491 uncertain significance not provided 2019-08-12 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
Athena Diagnostics RCV001760728 SCV002771753 uncertain significance not provided 2021-11-04 criteria provided, single submitter clinical testing

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