ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.897C>T (p.Arg299=) (rs773901705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417582 SCV000519151 benign not specified 2016-12-14 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.
Invitae RCV000458602 SCV000560931 likely benign Shprintzen-Goldberg syndrome 2016-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757765 SCV000886111 likely benign not provided 2017-07-04 criteria provided, single submitter clinical testing

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