ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) (rs372698234)

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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 RCV000618496 SCV000739360 uncertain significance Cardiovascular phenotype 2017-07-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000121696 SCV000723739 likely benign not specified 2017-10-17 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 RCV000121696 SCV000085894 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000468297 SCV000559930 likely benign Adams-Oliver syndrome 5 2017-05-02 criteria provided, single submitter clinical testing

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