ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) (rs376744729)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471034 SCV000559870 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000601288 SCV000719695 likely benign not specified 2017-05-23 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.
Ambry Genetics RCV000618939 SCV000739377 likely benign Cardiovascular phenotype 2016-01-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769597 SCV000900994 benign Thoracic aortic aneurysm and aortic dissection 2017-05-24 criteria provided, single submitter clinical testing

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