ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.591A>G (p.Pro197=)

gnomAD frequency: 0.00001  dbSNP: rs147652359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869229 SCV001010641 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001585827 SCV001814036 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing

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