ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)

gnomAD frequency: 0.00011  dbSNP: rs763988265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655247 SCV000777177 benign Adams-Oliver syndrome 5 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001552731 SCV001773473 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV000655247 SCV002553921 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270940 SCV002553922 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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