ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)

gnomAD frequency: 0.00001  dbSNP: rs779061035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773334 SCV002001793 uncertain significance not provided 2020-01-27 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 a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001868654 SCV002217230 benign Adams-Oliver syndrome 5 2024-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001868654 SCV002553972 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271298 SCV002553973 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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