ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) (rs369947231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460570 SCV000559926 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769615 SCV000901012 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-07-04 criteria provided, single submitter clinical testing

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