ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1441+7C>T (rs9411208)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603198 SCV000734683 benign Aortic valve disorder no assertion criteria provided clinical testing
GeneDx RCV000429617 SCV000525644 benign not specified 2016-09-22 no assertion criteria provided 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.

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