ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) (rs61751488)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227887 SCV000290302 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250862 SCV000319612 likely benign Cardiovascular phenotype 2015-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000435657 SCV000532861 benign not specified 2016-10-27 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769581 SCV000900978 benign Thoracic aortic aneurysm and aortic dissection 2017-06-30 criteria provided, single submitter clinical testing

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