ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1669+13G>A (rs147260092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440811 SCV000529309 benign not specified 2016-12-06 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.
Center for Human Genetics, Inc RCV000660142 SCV000782136 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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