ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)

gnomAD frequency: 0.00001  dbSNP: rs376055493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064894 SCV001229828 likely benign Adams-Oliver syndrome 5 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001551775 SCV001772350 uncertain significance not provided 2019-10-03 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
Genome-Nilou Lab RCV001064894 SCV002553941 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271178 SCV002553943 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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