ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) (rs61751536)

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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 RCV000621475 SCV000738384 likely benign Cardiovascular phenotype 2015-08-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769593 SCV000900990 benign Thoracic aortic aneurysm and aortic dissection 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000431633 SCV000533353 benign not specified 2017-12-20 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.
Invitae RCV000206483 SCV000261526 benign Adams-Oliver syndrome 5 2017-12-08 criteria provided, single submitter clinical testing

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