ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) (rs144496909)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000343850 SCV000467275 uncertain significance Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407969 SCV000467276 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718529 SCV000849393 likely benign History of neurodevelopmental disorder 2017-04-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000343850 SCV001001173 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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