ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) (rs559917218)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254053 SCV000320646 uncertain significance Inborn genetic diseases 2015-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000121668 SCV000727443 likely benign not specified 2018-02-14 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.
ITMI RCV000121668 SCV000085866 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000470027 SCV000559910 likely benign Adams-Oliver syndrome 5 2017-10-12 criteria provided, single submitter clinical testing

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