ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) (rs79782048)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000121661 SCV000264132 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000988297 SCV000290246 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121661 SCV000520858 likely benign not specified 2017-11-28 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.
Ambry Genetics RCV000621400 SCV000738419 uncertain significance Cardiovascular phenotype 2019-08-06 criteria provided, single submitter clinical testing Insufficient evidence
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660148 SCV000782142 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000988297 SCV001137965 benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170165 SCV001332715 benign Familial thoracic aortic aneurysm and aortic dissection 2018-01-19 criteria provided, single submitter clinical testing
ITMI RCV000121661 SCV000085859 not provided not specified 2013-09-19 no assertion provided reference population

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