ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) (rs757495549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617425 SCV000739382 likely benign Cardiovascular phenotype 2016-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000655294 SCV000777224 likely benign Adams-Oliver syndrome 5 2017-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000842214 SCV000984214 likely benign not provided 2018-04-18 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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