ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) (rs61751551)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226548 SCV000290250 benign Adams-Oliver syndrome 5 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000614404 SCV000716454 likely benign not specified 2017-12-19 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 RCV000618002 SCV000738450 likely benign Cardiovascular phenotype 2016-02-10 criteria provided, single submitter clinical testing

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