ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3475+15C>T

gnomAD frequency: 0.00001  dbSNP: rs201902109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433888 SCV000512672 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058892 SCV002459093 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-02-16 criteria provided, single submitter clinical testing

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