ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) (rs80340744)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000988296 SCV000290268 benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121679 SCV000731022 benign not specified 2017-02-01 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 RCV000620770 SCV000738381 benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770632 SCV000902083 benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-11 criteria provided, single submitter clinical testing
Mendelics RCV000988296 SCV001137964 likely benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121679 SCV000085877 not provided not specified 2013-09-19 no assertion provided reference population

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