ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2040-9A>G (rs138290714)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145396 SCV000192484 likely benign not specified 2014-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000145396 SCV000522094 benign not specified 2016-03-22 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.
Athena Diagnostics Inc RCV000145396 SCV000612649 benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000540540 SCV000647906 benign Mental retardation, CASK-related, X-linked 2020-12-08 criteria provided, single submitter clinical testing

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