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
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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603198 SCV000734683 benign Aortic valve disorder no assertion criteria provided clinical testing

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