ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) (rs139994842)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618934 SCV000738404 benign Cardiovascular phenotype 2015-09-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770637 SCV000902088 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000607038 SCV000732173 benign not specified 2017-08-17 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 RCV000474955 SCV000559919 benign Adams-Oliver syndrome 5 2017-09-13 criteria provided, single submitter clinical testing

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