ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1299T>G (p.Val433=)

dbSNP: rs1315845582
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500030 SCV001704807 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-06-17 criteria provided, single submitter clinical testing
GeneDx RCV001712911 SCV001946048 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing

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