ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)

dbSNP: rs778992111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769602 SCV000900999 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869066 SCV002258246 likely benign Adams-Oliver syndrome 5 2023-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001869066 SCV002553937 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271025 SCV002553938 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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