ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) (rs61751553)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228362 SCV000290245 benign Adams-Oliver syndrome 5 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000429504 SCV000530490 likely benign not specified 2018-02-20 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.
Ambry Genetics RCV000619800 SCV000738429 likely benign Cardiovascular phenotype 2015-12-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Human Genetics, Inc RCV000660147 SCV000782141 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769599 SCV000900996 likely benign Thoracic aortic aneurysm and aortic dissection 2017-08-24 criteria provided, single submitter clinical testing

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