ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) (rs201045092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466763 SCV000548970 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000602596 SCV000714770 likely benign not specified 2017-11-30 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 RCV000621454 SCV000739387 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)

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