ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) (rs202231073)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464765 SCV000559875 benign Adams-Oliver syndrome 5 2017-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000609331 SCV000719224 likely benign not specified 2017-05-09 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 RCV000617638 SCV000739402 likely benign Cardiovascular phenotype 2017-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Human Genetics, Inc RCV000660164 SCV000782158 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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