ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) (rs11574889)

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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 RCV000241622 SCV000319407 benign Cardiovascular phenotype 2015-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769606 SCV000901003 benign Thoracic aortic aneurysm and aortic dissection 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000434406 SCV000528006 benign not specified 2016-10-14 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 RCV000206348 SCV000261855 benign Adams-Oliver syndrome 5 2017-12-29 criteria provided, single submitter clinical testing

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