ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) (rs2229971)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435319 SCV000525662 benign not specified 2016-09-22 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 RCV000617537 SCV000738284 benign Cardiovascular phenotype 2014-12-30 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
Invitae RCV001510322 SCV001717332 benign Adams-Oliver syndrome 5 2020-11-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602700 SCV000734680 likely benign Aortic valve disease 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000435319 SCV001809038 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000435319 SCV001923985 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000435319 SCV001957737 benign not specified no assertion criteria provided clinical testing

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