ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=)

gnomAD frequency: 0.00029  dbSNP: rs150607716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726242 SCV000343122 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000726242 SCV000520596 likely benign not provided 2018-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078536 SCV000766440 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-24 criteria provided, single submitter clinical testing

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