ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) (rs370523171)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539534 SCV000659448 likely benign Adams-Oliver syndrome 5 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000615663 SCV000721329 likely benign not specified 2017-07-24 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 RCV000619315 SCV000739472 likely benign Cardiovascular phenotype 2017-04-04 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 RCV000660167 SCV000782161 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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