ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) (rs2229974)

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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 RCV000618641 SCV000738279 benign Cardiovascular phenotype 2014-12-30 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607860 SCV000734675 benign Aortic valve disorder no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000313125 SCV000339458 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000313125 SCV000519072 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.

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