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
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.
Ambry Genetics RCV000618641 SCV000738279 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607860 SCV000734675 benign Aortic valve disorder no assertion criteria provided clinical testing

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