ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) (rs369067940)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086273 SCV000548923 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764819 SCV000895970 uncertain significance Aortic valve disorder; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000826311 SCV000967894 likely benign not provided 2018-03-27 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170168 SCV001332718 benign Familial thoracic aortic aneurysm and aortic dissection 2018-02-01 criteria provided, single submitter clinical testing
ITMI RCV000121657 SCV000085855 not provided not specified 2013-09-19 no assertion provided reference population

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