ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1038C>T (p.His346=) (rs376951155)

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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 RCV000248756 SCV000320579 likely benign Cardiovascular phenotype 2015-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000460083 SCV000559883 likely benign Adams-Oliver syndrome 5 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000614460 SCV000723238 likely benign not specified 2017-09-28 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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