ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) (rs568700183)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444692 SCV000533274 likely benign not specified 2017-05-17 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 RCV001084979 SCV000559889 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680587 SCV000808009 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729393 SCV000857050 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770623 SCV000902074 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-02-09 criteria provided, single submitter clinical testing

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