ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) (rs116317506)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618936 SCV000738380 benign Cardiovascular phenotype 2016-01-07 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 RCV000769587 SCV000900984 benign Thoracic aortic aneurysm and aortic dissection 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000121699 SCV000714894 benign not specified 2017-01-23 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.
ITMI RCV000121699 SCV000085897 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000470160 SCV000559893 benign Adams-Oliver syndrome 5 2018-01-05 criteria provided, single submitter clinical testing

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