ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.2160T>C (p.Leu720=) (rs757563548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553027 SCV000647907 benign Mental retardation, CASK-related, X-linked 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720727 SCV000851608 likely benign History of neurodevelopmental disorder 2017-03-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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