ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.738C>T (p.Val246=)

dbSNP: rs1584848415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490319 SCV001694880 likely benign Cortical dysplasia-focal epilepsy syndrome 2019-09-15 criteria provided, single submitter clinical testing

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