ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) (rs61751539)

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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 RCV000251562 SCV000319409 likely benign Cardiovascular phenotype 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000420433 SCV000532095 likely benign not specified 2017-10-24 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 RCV000456348 SCV000559871 benign Adams-Oliver syndrome 5 2017-12-29 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000660168 SCV000782162 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770624 SCV000902075 benign Thoracic aortic aneurysm and aortic dissection 2016-03-11 criteria provided, single submitter clinical testing

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