ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His)

gnomAD frequency: 0.00001  dbSNP: rs972658026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489575 SCV000576653 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27282351)

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