ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) (rs368108883)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175460 SCV000226942 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718353 SCV000849215 likely benign History of neurodevelopmental disorder 2017-03-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001089005 SCV001010556 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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