ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.159G>T (p.Gly53=)

gnomAD frequency: 0.00001  dbSNP: rs761946846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175757 SCV000227297 uncertain significance not provided 2015-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000175757 SCV001819676 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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