ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)

dbSNP: rs377165086
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296857 SCV001485833 benign Adams-Oliver syndrome 5 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001760339 SCV001990385 uncertain significance not provided 2023-05-18 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 does not alter protein structure/function; This variant is associated with the following publications: (PMID: 36479692)
Genome-Nilou Lab RCV001296857 SCV002553289 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271208 SCV002553290 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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