ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2424C>T (p.Ser808=)

dbSNP: rs794727172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175072 SCV000226500 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054063 SCV002354246 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-10-21 criteria provided, single submitter clinical testing

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