ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3873C>T (p.Gly1291=)

gnomAD frequency: 0.00002  dbSNP: rs780026745
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 RCV001227896 SCV001400275 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001575876 SCV001802959 likely benign not provided 2019-10-18 criteria provided, single submitter clinical testing

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