ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)

dbSNP: rs750085425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767064 SCV001990073 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001882862 SCV002126207 likely benign Adams-Oliver syndrome 5 2022-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001882862 SCV002553366 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271293 SCV002553367 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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