ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) (rs61733294)

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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 RCV000242989 SCV000320649 benign Cardiovascular phenotype 2015-12-10 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
GeneDx RCV000417730 SCV000533443 benign not specified 2017-01-05 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 RCV000475797 SCV000559928 benign not provided 2019-02-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769588 SCV000900985 likely benign Thoracic aortic aneurysm and aortic dissection 2016-08-12 criteria provided, single submitter clinical testing

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