ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=)

dbSNP: rs794727872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179941 SCV000232261 uncertain significance not provided 2014-09-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289920 SCV000467231 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348083 SCV000467232 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000289920 SCV003289691 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-02-02 criteria provided, single submitter clinical testing

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