ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) (rs56356283)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194347 SCV000202515 likely benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194347 SCV000247053 likely benign not specified 2015-06-01 criteria provided, single submitter clinical testing
Invitae RCV000234647 SCV000289926 benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297884 SCV000467237 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000234647 SCV000467238 uncertain significance Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711326 SCV000841667 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716411 SCV000847251 likely benign History of neurodevelopmental disorder 2016-08-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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