ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) (rs201985795)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621815 SCV000739373 benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175337 SCV000226808 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000175337 SCV000529311 benign not specified 2016-12-06 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 RCV000233036 SCV000290258 benign Adams-Oliver syndrome 5 2017-12-28 criteria provided, single submitter clinical testing

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