ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2308G>A (p.Asp770Asn)

dbSNP: rs2133358672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787011 SCV002029037 uncertain significance not provided 2021-11-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at 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

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