ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)

gnomAD frequency: 0.00001  dbSNP: rs762492041
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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 RCV001206747 SCV001378069 benign Adams-Oliver syndrome 5 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001760172 SCV001991141 uncertain significance not provided 2019-06-06 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
Genome-Nilou Lab RCV001206747 SCV002553399 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271193 SCV002553400 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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