ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3511-10G>A (rs139838537)

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Total submissions: 3
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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 RCV000770633 SCV000902084 benign Thoracic aortic aneurysm and aortic dissection 2017-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000418093 SCV000530572 benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000468796 SCV000559924 benign Adams-Oliver syndrome 5 2017-11-21 criteria provided, single submitter clinical testing

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