ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) (rs35136134)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121669 SCV000226515 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000229399 SCV000290251 benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248480 SCV000319434 benign Cardiovascular phenotype 2017-06-01 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
GeneDx RCV000121669 SCV000532483 benign not specified 2016-10-10 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660152 SCV000782146 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170158 SCV001332708 benign Familial thoracic aortic aneurysm and aortic dissection 2017-12-07 criteria provided, single submitter clinical testing
ITMI RCV000121669 SCV000085867 not provided not specified 2013-09-19 no assertion provided reference population

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