ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1125C>T (p.Phe375=) (rs141790702)

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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 RCV000193126 SCV000246866 benign not specified 2017-12-21 criteria provided, single submitter clinical testing
Invitae RCV001083074 SCV000647899 benign Mental retardation, CASK-related, X-linked 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716603 SCV000847445 benign History of neurodevelopmental disorder 2014-09-30 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000526259 SCV001143426 benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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